ライフサイエンスコーパス: perfectly

1 on was shown to fit the experimental results perfectly.

2 n; a small fraction of neurons discriminated perfectly.

3 to represent the perturbations of the medium perfectly.

4 ission, incident coherent optical fields are perfectly absorbed within a resonator that contains a lo

5 vel type of Beynon Gabor zone plate based on perfectly absorbing carbon nanotube forest.

6 nzyme Ubc9, however the acceptor lysines are perfectly accessible in Ran/NTF2 complexes.

7 simple HOMO-->LUMO-type single substitution perfectly accounts for the BODIPY core, S(1) states of c

8 No documentation strategy was perfectly accurate in this study.

9 and so it is unlikely that observers will be perfectly accurate, but an evolutionary view strongly pr

10 n a unique category of being an essentially "perfectly" active helicase.

11 Therefore, they are perfectly adapted to monitor HIV persistence in large co

12 This particular topology is perfectly adapted to the U-shaped conformation of lamina

13 ng apparatus, the chlorosome, by which it is perfectly adapted to thrive photosynthetically under ext

14 tractant glucose is shown to be biphasic and perfectly adapted, as for aspartate.

15 lities such as computed tomography, although perfectly adept at identifying and quantifying advanced

16 While highly reactive in solution, 3 is a perfectly air stable salt, making it a convenient Lewis

17 is the ability of recombination proteins to perfectly align the damaged DNA with homologous sequence

18 lts using different approaches do not always perfectly align, together they provide convincing eviden

19 unting challenges is in creating large-area, perfectly aligned arrays of purely semiconducting SWNTs

20 Drug loaded 3D patches possessed perfectly aligned fibers giving rise to fibrous strut or

21 he tunneling of electrons between two almost perfectly aligned graphene crystals.

22 although only K(+) promoted the formation of perfectly aligned tetra-molecular G-quadruplexes.

23 ced opportunities demand the ability to form perfectly aligned, horizontal arrays of purely semicondu

24 reatment the outcomes of the two players are perfectly aligned.

25 tivity when the donor and acceptor sites are perfectly aligned.

26 A significant features is that a perfectly alloyed single-crystal structure is obtained a

27 This extensional direction matches perfectly also with the southward pulling force vectors

28 The preparation of perfectly alternating and regioslective copolymers deriv

29 experiment and theory were performed on the perfectly alternating copolymerization of 1-butene oxide

30 (TON) were close to 500; in the case of CHO perfectly alternating poly(cyclohexene carbonate) were o

31 Both herbs and spices fit these criteria perfectly and yet strategies to detect fraudulent adulte

32 termine conversion to Alzheimer disease (AD) perfectly, and criteria do not specify how to take patie

33 that, even if symptomatic cases are recorded perfectly, and disease spread parameters are estimated e

34 ge, in which 3D motion is not accumulated as perfectly as in the 2D motion model system.

35 xposure used in epidemiologic studies is not perfectly ascertained.

36 es, a quaternary stereogenic center could be perfectly assembled, with a single diastereoisomer being

37 The mutation was perfectly associated in all cases and obligate heterozyg

38 mly duplicated, diaphanous-related formin is perfectly associated with symmetry breaking in the pond

39 plumage difference between these warblers-is perfectly associated with the promoter region of agouti,

40 These diversification shifts are only rarely perfectly associated with WGD events, but commonly follo

41 system and sex-biased dispersal are far from perfectly associated within these taxa.

42 representations are already operating nearly perfectly (at least for non-ambiguous concrete nouns), a

43 ropy balance of up to 10 kcal/mol are almost perfectly balanced at room temperature, whereas they yie

44 ncludes all possible local directions and is perfectly balanced at the local motion level.

45 cal confidence, and therefore occur even for perfectly calibrated confidence measures.

46 sponsiveness to LPS, but nevertheless remain perfectly capable of making inflammatory cytokines in re

47 ntuitively, we find that conductance of this perfectly cation-selective channel increases about two-f

48 oup on each repeat unit, which is enabled by perfectly chemoselective and highly syndiospecific coord

49 The polymerization by 1 is perfectly chemoselective for all four polar divinyl mono

50 method to automate consistent creation of a perfectly circular anterior capsulotomy with a disposabl

51 in the narrow-leafed lupin genome, LanFTc1, perfectly co-segregated with the Ku locus in a reference

52 If the side effects of the therapy are not perfectly collinear with the treatment benefits, this wi

53 The materials reported here perfectly combine high macroscopic conductivity with sur

54 hat the authors draw from their The data are perfectly compatible - in fact, much more in line - with

55 Nano-carbon functionalization is perfectly compatible with other chemical or biological a

56 UV regions centered at 407 nm, which can be perfectly compatible with the commercial UV chips.

57 ly many possible flux distributions that are perfectly compatible with the dynamics of the metabolite

58 e loss of cells due to lineage commitment is perfectly compensated by the duplication of neighbours,

59 ce and RT-PCR, while all mirtrons suppressed perfectly complementary luciferase reporter targets to l

60 TR) sites, or miR-122-mediated cleavage at a perfectly complementary site.

61 ilization of the mismatched DNA relative the perfectly complementary strand, suggesting that the kink

62 to much lower fluorescence signals than the perfectly complementary target, while the type of mismat

63 etected, even though miR-H3, like miR-H4, is perfectly complementary to ICP34.5 mRNA.

64 enome-integrated inverted repeat transgenes, perfectly complementary to the 3' untranslated region of

65 tterns of gene loss and retention are almost perfectly complementary.

66 These results were perfectly concordant with fluoroscopic nephrostogram res

67 ct and show experimentally that light can be perfectly confined in a patterned dielectric slab, even

68 st 14 out of 285 model protein complexes are perfectly conserved across 95% of the genomes used, yet

69 Unlike Ub, which is almost perfectly conserved among eukaryotes, ISG15 is highly di

70 ation of miR-451, a functional miRNA that is perfectly conserved among vertebrates, is independent of

71 These sequences are perfectly conserved between viruses from three clades of

72 cleft of Sf9 TLR1 and human BMP1 are nearly perfectly conserved, offering an explanation of why Sf9

73 The Walker A motif of FleQ is perfectly conserved, opening up the possibility that oth

74 The sharpness of the zone boundaries was perfectly conserved.

75 We demonstrate that the MEP is a perfectly consistent concept for nonergodic and complex

76 only one of the four docking arrangements is perfectly consistent with our genetic and biochemical in

77 vides homogeneous bimetallic NPs with almost perfectly constant particle size over an unusually wide

78 ded glycoclusters exposing heterogeneous yet perfectly controlled displays of alpha-mannosyl (alpha-M

79 In addition, the flow conditions were perfectly controlled in the microdevice, and the liquid

80 chemistry at C(alpha) and C(beta) centers is perfectly controlled, and the intermediate C-3 enolate i

81 the global steel system until 2050 assuming perfectly coordinated trade and extensive dilution, but

82 An almost perfectly coplanar syn arrangement of the heterocycles w

83 ent vascular phases enabled acquisition of a perfectly coregistered CT angiogram and venous phase-enh

84 for the misalignment between the 2 scanners, perfectly coregistered MRI and PET volumes were reproduc

85 used in this way, and here we demonstrate it perfectly corrects frame-shifts only 60% of the time.

86 ed by gas chromatography (GC), but they were perfectly correlated (R(2) = 0.995).

87 a square meter of habitat are independent or perfectly correlated among host individuals.

88 thogonality ranges from 0 to 1 correspond to perfectly correlated and orthogonal separations, respect

89 : they are highly correlated phenotypically, perfectly correlated genetically (indicating that the sa

90 e manifestations observed in VHL syndrome is perfectly correlated with a gradient of VHL protein (pVH

91 -10, TGF-beta, and their receptors that were perfectly correlated with an increased expression of the

92 This waveform feature is nearly perfectly correlated with beta-high gamma phase-amplitud

93 essment for insulin resistance, which almost perfectly correlated with fasting insulin levels, was al

94 CMT3 genome locations nearly perfectly correlated with H3K9me2, and CMT3 stably assoc

95 ISS) population events were found to be near-perfectly correlated with pulsatile LH secretion.

96 is in complete linkage disequilibrium (i.e., perfectly correlated) with rs37973.

97 ecies effects on different functions are not perfectly correlated, meaning they may contribute to div

98 sions based on the experimental observations perfectly correspond with the results from quantum-chemi

99 otein and containing missense mutations that perfectly cosegregate with nemaline myopathy in the stud

100 by multiple pathogenic variants that do not perfectly cosegregate with the phenotype.

101 10) a splice site mutation (c.102-1G>A) that perfectly cosegregates with the phenotype in the family.

102 two motors in kinetic detail but keeps them perfectly coupled in thermodynamic equilibrium and (time

103 ing the original DNA sample and were able to perfectly decode the data.

104 e principle implies, no single biomarker can perfectly define disease subtypes.

105 g the C-3 all-carbon quaternary center, in a perfectly defined configuration.

106 ndrimers are hyperbranched polymers having a perfectly defined structure because they are synthesized

107 l DW states and experimental parameters were perfectly defined.

108 "Too much of a good thing" perfectly describes the dilemma that living organisms fa

109 ntral stalk, the interfaces of this ring are perfectly designed for inducing ATP hydrolysis.

110 When amoebae aggregate they do not perfectly discriminate against nonkin, leading to chimer

111 MIST more robustly identified features that perfectly discriminate subjects according to gender or t

112 No procalcitonin threshold perfectly discriminated between viral and bacterial path

113 ategy that results in DNA-functionalized and perfectly dispersed NDs that were then self-assembled in

114 ently thin, it can move with the medium flow perfectly due to the domination of forces applied to it

115 reserved their phenotype and genotype nearly perfectly during inferred transmission from father to so

116 t emission, thereby resulting in a nominally perfectly-fabricated single quantum dot device failing t

117 e two surface-exposed phenylalanines of TrxR perfectly fit into the conserved hydrophobic pocket of t

118 y gained considerable attention because they perfectly fit prerequisites for efficient drug design an

119 show that ritonavir is a type II ligand that perfectly fits into the CYP3A4 active site cavity and ir

120 s validated by forming rigor structures that perfectly fitted into an experimentally determined EM ma

121 orogenic product molecule serves as a probe, perfectly fitting in the enzymatic reaction active site

122 Other, less perfectly fitting multidentate amines also bind markedly

123 images: Objects at only one distance can be perfectly focused.

124 ority of reported o-phenylene oligomers, the perfectly folded conformer comprises perhaps 50-75% of t

125 ing groups (acetoxy), we observe >90% of the perfectly folded conformer, and stronger electron withdr

126 However, in practice real data may not perfectly follow the specified distribution.

127 The autonomous rotational behavior perfectly followed the predicted model, setting the stag

128 ions the C-terminal heme-binding NEAT domain perfectly for heme transfer.

129 a pure state whose evolution can be tracked perfectly from the measurement record.

130 ome is a region of the noncoding genome that perfectly fulfills these criteria and is of high interes

131 More generally, even the stability of perfectly functional mRNAs appears to be dictated by ove

132 Simulations based on perfectly funneled energy landscapes often capture many

133 ng of GlpG, an intramembrane protease, using perfectly funneled structure-based models that implicitl

134 Moreover, these pitfalls are perfectly general, with each applying to dozens of other

135 nd domain layouts predicted by the model for perfectly hexagonal RGC mosaics.

136 and break (DSB) at MATa, leaving one cut end perfectly homologous to the HMLalpha donor, while the se

137 orm one-dimensional (1D) channels that could perfectly host PCBM but, in the pure material, accommoda

138 fectly hybridized CPs are digested while the perfectly hybridized CPs are covalently joined together

139 A perfectly hyperuniform structure has complete suppressio

140 The 5 mutations V1 to V5 segregated perfectly in the 102 affected and 39 unaffected members

141 RR(CY), the formula predicts PSC bias almost perfectly in this simple setting (correlation with obser

142 The out-of-plane N-methyl group of NMM fits perfectly into the center of the parallel GQ core where

143 ds number, Re, is of order 1 and hence fills perfectly into the gap of our recently proposed inertia-

144 In vitro and clinical isolates clustered perfectly into two groups, without misclassification, us

145 A pendulum prepared perfectly inverted and motionless is a prototype of unst

146 Firstly, even with a perfectly known phylogeny, ancestral sequence reconstruc

147 le pathogenic mechanisms are still far to be perfectly known.

148 composite transparent electrodes show almost perfectly Lambertian emission and superior angular color

149 ar gallium nitride (GaN) DBRs, consisting of perfectly lattice-matched non-polar (11-20) GaN and meso

150 s bent (174.7 degrees ) in comparison to the perfectly linear (180.0 degrees ) structure of the analo

151 Reproducibility emerges from perfectly linear feedforward processes: changing the gen

152 hat describes how positive selection at many perfectly linked sites alters the structure of genealogi

153 though transport in superconducting wires is perfectly lossless for direct current, transport of radi

154 tal and theoretical magnetic anisotropy axes perfectly match and lie along the most electro-negative

155 We corrected an initial isolate of synV to perfectly match the designed sequence using integrative

156 Differential melting of perfectly matched and mismatched targets from capture pr

157 the second step, the fluorescence signal for perfectly matched and random DNA does not vary greatly,

158 PC proliferation and differentiation are not perfectly matched at any given circadian time but prefer

159 the Au NPs increased in the presence of its perfectly matched DNA (DNA(pm)).

160 For a long, perfectly matched hybrid, deamination is more efficient

161 The region of interest for focal AT perfectly matched in 21 of 21 (100%) AT.

162 modification of a protein scaffold, which is perfectly matched in both size and valency to the target

163 Perfectly matched layers are also implemented, allowing

164 observe CD activity in CEUS in 10 cases that perfectly matched LDCTE findings.

165 Different length of perfectly matched oligonucleotide targets at 10-mer, 15-

166 he AuNP-bound probe and DNA targets that are perfectly matched or contain a single-base mismatch.

167 ch can strongly bias amplification, but even perfectly matched primers can exhibit preferential ampli

168 had lower genome-editing efficiency than the perfectly matched site.

169 effective and sometimes more effective than perfectly matched sites.

170 ces off the magnetic beads, leaving only the perfectly matched SNP strands on the magnetic beads.

171 mation so that annealing only occurs between perfectly matched strands; the protein then clamps the s

172 d ratios compared to a ratio of 4:1 with the perfectly matched substrates.

173 ere able to detect with nanomolar affinity a perfectly matched target as short as 10 bases (K(D) = 0.

174 For perfectly matched targets, Exo III's exonuclease activit

175 ally less potent against both mismatched and perfectly matched targets.

176 d size of their imprinted molecular cavities perfectly matched those of the target analyte molecules.

177 nce on asymmetric anion-pi catalysis and, if perfectly matched, affords the highest enantio- and dias

178 nt fluorescence emissions in the presence of perfectly matched, mismatched, and random DNA sequences.

179 Perfectly-matched PNA-RNA hybrids remained intact and we

180 onmental conditions, its simulated STM image perfectly matches experimental data, it is more thermody

181 the calculation of melting temperatures for perfectly matching sequences, mismatches, bulge loops, C

182 ot core, the presence of PRDM9 binding sites perfectly matching the consensus motif for the most comm

183 nding fragment of NFAT transcription factor, perfectly matching the previously described LXVP calcine

184 tric information available for a model given perfectly measured data) of certain MSCE models has been

185 ructures show that these IRES domains nearly perfectly mimic a tRNA * mRNA interaction.

186 The landfill was treated as a perfectly mixed batch reactor.

187 strate that this urban area is not a single, perfectly mixed ecology, but is in fact comprised of a s

188 ve species, we obtained long-range arrays of perfectly mixed macromolecules with a variety of polymer

189 All compartments were assumed perfectly mixed, and represented by ordinary differentia

190 rotation, frequency, and phase shift of the perfectly modulated light sheet are demonstrated.

191 heories generally assume that the chains are perfectly monodisperse; however, typical experimental co

192 distribution of 25(OH)D in Ghana was almost perfectly normal (Gaussian), with progressively lower me

193 ted rapid normalization of blood glucose and perfectly normal glucose disposal during an IVGTT with n

194 in some patients at the onset of T1D, and a perfectly normalized biphasic insulin release was obtain

195 an either be considered as a packed bed with perfectly ordered and uniform flow paths or as multicapi

196 s in the so-called Dirac cone for the ideal, perfectly ordered crystal structure.

197 On this model surface, we show that a perfectly ordered layer of monodentate phosphonic acid m

198 uence of topology, which forces defects into perfectly ordered phases.

199 m which we build 11 memory switches that are perfectly orthogonal to each other and the FimE and HbiF

200 Ammonia-mono(dinitramido)borane is a perfectly oxygen-balanced high-energy-density material (

201 everal three-way junctions, including a rare perfectly paired three-way junction (3WJ).

202 Although similarities exist, no past event perfectly parallels future projections in terms of disru

203 l-to-roll type and nanoimprint processing of perfectly patterned surfaces and as templates and scaffo

204 substantially enhance solar absorption over perfectly periodic and random arrays.

205 ered N(1)-C(2)-E(3)-C(4)-C(5) ring is either perfectly planar (and coplanar with two peripheral aryl

206 B(23)(-) is a perfectly planar and heart-shaped cluster with a pentago

207 The four pyridyl nitrogen atoms define a perfectly planar rectangle.

208 Both isomers of AlB(11)(-) are perfectly planar.

209 We study the effects of elastic and elastic-perfectly plastic matrices, overlap offset ratio and the

210 e 3PP lasing generated from composite MOF is perfectly polarized.

211 c or aberrantly located molecular motifs are perfectly positioned to act as pattern-recognition recep

212 -237 (on loop Switch-1) and a water molecule perfectly positioned to attack the PgammaO3(-) in the su

213 Thus, mGluR5 is perfectly positioned to regulate nucleoplasmic Ca(2+)in

214 s, the centromeric nucleosome is essentially perfectly positioned.

215 sures of clinical aggressiveness, but do not perfectly predict patient outcomes.

216 at the output of each dendrite can be almost perfectly predicted by the intensity and spatial configu

217 c vocalization that, as a population, almost perfectly predicted whether subjects would produce a voc

218 b deletion in the promoter region, which was perfectly predictive of vernalization response in 216 wi

219 local measuring device but which need not be perfectly prepared.

220 The discovery of perfectly preserved 113-119 million year old fossilised

221 t the conditions for optimal DC guidance are perfectly provided by the CCL21 gradients we measure in

222 ct a synthetic homo economicus, the mythical perfectly rational agent of neoclassical economics.

223 mutagenesis in the lung of SHS-exposed mice perfectly recapitulates our analysis of the TP53 mutatio

224 Our method almost perfectly recovers withheld capture times in an Arabidop

225 elate to (1) cohort compositions that do not perfectly reflect the composition of the intended use po

226 regenerative abilities of model species that perfectly regenerate limbs, brains, and other complex bo

227 ecause the floral diffraction grating is not perfectly regular [5-9].

228 (0-1 scale: 0, completely unreliable; and 1, perfectly reliable) for all 3 outcomes.

229 Our designs perfectly reproduce the behaviour of these singular devi

230 , the free energy of bubble formation can be perfectly reproduced in the framework of classical nucle

231 ence kinetics of PSII of different sizes are perfectly reproduced with only two adjustable parameters

232 For 2D films and multilayers, IM3D perfectly reproduces SRIM results, and can be approximat

233 e the attractively bound solvated interfaces perfectly reproduces the measured 60(o) periodicity, rev

234 ysis, we showed that after injury planarians perfectly restored brain:body proportion by increasing b

235 14 x 10(6) bytes in DNA oligonucleotides and perfectly retrieved the information from a sequencing co

236 This near perfectly reversible magnetic response is attributable t

237 ultipulse, low-energy discharge to produce a perfectly round anterior capsulotomy instantaneously and

238 P3:c.156C > A (NP_003871.1:p.Cys52Ter), that perfectly segregated with the disease in the family.

239 el splice site mutation c.643 + 1G > A, that perfectly segregated with the disease.

240 We identified perfectly segregating homozygous variants in DCLRE1C in

241 fied 8 variants significantly associated and perfectly segregating with the low-HDL trait in 2 multig

242 tradeoff because signal and noise cannot be perfectly separated, and rejecting noise also means reje

243 chnologies and the impact that being able to perfectly sequence the genome would have on understandin

244 In this family, a perfectly sequence-conserved helix that forms a tetramer

245 caffold a positively charged concave surface perfectly shaped for duplex DNA.

246 ticized as the experimental protocol did not perfectly simulate real-life field scenarios.

247 hat brain activity is neither stationary nor perfectly sinusoidal.

248 supersaturated Ge layer allows us to obtain perfectly site-controlled, ordered NDs or ND-molecules o

249 y via delocalized sigma and pi bonds, is not perfectly smooth and exhibits unusual heptagonal faces,

250 Transparent tissues are seldom perfectly so, resulting in unavoidable internal light sc

251 urrent increase provides full assurance of a perfectly specific recognition.

252 we alternated pursuit and fixation trials to perfectly specify trial identity.

253 dex for 2, tau4, is 0.22, where 0 would be a perfectly square-planar molecule.

254 investigated in strong acid, while remaining perfectly stable in accelerated durability testing.

255 channel structure wherein gamma-CD tori are perfectly stacked in one dimension in a manner reminisce

256 ces stereo-random, highly stereo-regular, or perfectly stereo-regular polymers, depending on the mono

257 The eyes do not stay perfectly still during attempted fixation; fixational ey

258 e inherent variable efficiency of generating perfectly strand-specific libraries.

259 Being able to perfectly substitute G residues, d(th)G will transform n

260 Therefore, primordial Miller-Urey soup was perfectly suitable as a growth media for early life form

261 he acidic range, therefore making the device perfectly suitable for biomedical diagnosis.

262 Therefore this system is perfectly suitable for its use in modified atmosphere pa

263 when combined with LWR, demonstrates to be a perfectly suitable quantitative method to be implemented

264 shifting their selectivity, therefore being perfectly suited for optimal contrast encoding and discr

265 Although Perl scripts are perfectly suited for processing large volumes of text-ba

266 Solution NMR spectroscopy is perfectly suited to study EIAV-CA that dimerizes weaker

267 bolism exemplified by this autotrophic cycle perfectly suits the lifestyle of ammonia-oxidizing archa

268 and coronavirus nsp15 catalytic domains were perfectly superimposed, especially in the "active site l

269 ike kinase gene barely any meristem 3 (BAM3) perfectly suppress the postembryonic root meristem growt

270 including humans and most metazoans, are not perfectly symmetrical.

271 e cycles of 13 and 17 years and their nearly perfectly synchronized mass emergences.

272 The apices of the narrow and perfectly tapered fossil leaves end in a single tentacle

273 ed under different conditions matched nearly perfectly the transmission electron microscopy tomograph

274 using whole-exome sequencing and segregated perfectly to family members with severe atopy only but w

275 ve selection in the bat ACE2 gene map almost perfectly to known SARS-CoV interaction surfaces.

276 the resulting expression calls lends itself perfectly to modern regularization approaches that thriv

277 ed by the ELISPOT analysis correspond almost perfectly to such regions.

278 s decreased by 33% at 2 hours, corresponding perfectly to the 33% loss specifically of small dendriti

279 uggested that the hypothesized model did not perfectly to the data, a slightly modified model which i

280 hat the strength of the syndecan interaction perfectly tracks orexigenic action.

281 imensional potential barrier of height V are perfectly transmitted even as V --> infinity.

282 common, and arose both from our inability to perfectly triage these patients, and from limits to the

283 mechanical properties of the interaction are perfectly tuned to their function by inducing formation

284 results revealed that NTL9 folding is almost perfectly two-state, while small deviations from two-sta

285 sites in a fairly predictable, although not perfectly understood, fashion.

286 the all-angle negative reflections have been perfectly verified by experimental measurements.

287 Hill-type actomyosin dynamics with a plastic perfectly viscoplastic description of the matrix quantit

288 ough these stimuli were discriminated nearly perfectly when presented as reversed-word pairs at short

289 ar single quantum correlation spectrum and a perfectly wild-type-like crystal structure, but with a s

290 R53C segregates perfectly with AMD in 11 cases (heterozygous) and 1 elde

291 This repeat expansion segregates perfectly with disease in the Finnish population, underl

292 n of NORE1A protein levels correlated almost perfectly with elevation of Ras activity in primary huma

293 l connections of the crystal structure agree perfectly with previous electron microscopic images of V

294 However, value correlates perfectly with salience when appetitive stimuli are inve

295 30ppb, R(2)=0.9991) was obtained, complying perfectly with the acceptable arsenic concentration limi

296 This variant segregated perfectly with the disease and has not been reported in

297 combines monocular cues that were correlated perfectly with the disparity cues.

298 First, one West African cluster matched perfectly with the morphospecies M. regia that formed a

299 in deposit (IPOD) site markers, but coincide perfectly with the prion seed-reducing protein Btn2 and

300 e variant CFH 1:196646753 (C192F) segregated perfectly within a family characterized by advanced AMD