ライフサイエンスコーパス: cosegregate

1 l dominant skin disease-and bipolar disorder cosegregate.

2 ther atopic diseases and how these disorders cosegregate.

3 The identified mutation cosegregated also with abnormal ECG and with 1 case of a

4 Endophenotypes (neurobiological markers that cosegregate and are associated with an illness) are thou

5 c phenotypes since the two transgenes always cosegregated, and (3) reactivation of a transgenic pheno

6 ces in neural phenotypes and psychopathology cosegregate as they fall through the family tree, we can

7 that multiple modifiers of hypertension can cosegregate at a single GWAS locus.

8 This insertion mutation cosegregated closely with the osm1 phenotype and was the

9 These results suggest that rare cosegregating CNVs may influence melanoma susceptibility

10 ied five further ethnically diverse families cosegregating CRD and AI.

11 Cosegregating deletions of chromosomes 5 and 17 were fou

12 members of a pedigree previously reported to cosegregate DRRS and a heterozygous SALL4 mutation.

13 and unadapted genotypes produced F2 progeny cosegregating for stomatal conductance and leaf temperat

14 The cosegregating haplotype was seen in all (6/6) samples of

15 tance in this pedigree is the absence of any cosegregating hemoglobinopathy, thus allowing observatio

16 16 affected members, we identified the same, cosegregating heterozygous missense mutation (c.4447G>A;

17 ritance of coloboma identified two different cosegregating heterozygous nonsense mutations (c.370C>T

18 We demonstrate that hg and D10Mit69 cosegregate in a cross of congenic strains C57BL/6J-hghg

19 We show that Wnt-3a and vt cosegregate in a high-resolution backcross and fail to c

20 ta-arrestins form a preassembled complex and cosegregate in caveolin-1-enriched fractions.

21 hypothesis that TCR expression and function cosegregate in gammadelta T cells.

22 ded evidence that blood pressure (BP) and IR cosegregate in Hispanic families, suggesting that this a

23 a previously reported 18q22 breakpoint that cosegregated in a family with GTS and related phenotypes

24 lice donor site, and a 3 bp duplication that cosegregated in a multiplex family.

25 L1CAM(+) and CD133(+) cells cosegregated in gliomas, and levels of L1CAM were higher

26 sense variants (D299G and T399I) of TLR4 are cosegregated in individuals of European descent and, in

27 ADHD and DESR cosegregated in siblings.

28 The p.E245X mutation cosegregated in the family as a completely penetrant aut

29 Wing size and developmental perturbability cosegregated in the offspring of between-population cros

30 a report of spastic paraplegia and dementia cosegregating in a family with deletion of the final exo

31 nviable unless a functional copy of the gene cosegregated, indicating that the vacuolar ATPase is ess

32 All fragments of transgenic DNA cosegregated, indicating that they were integrated at si

33 RAPD markers cosegregated into 12 different S. brevidens synteny grou

34 curred, we found that the acentric fragments cosegregated into either the mother or daughter cell 95%

35 h implies that a significant fraction of bPC cosegregates into l(o) phase domains.

36 Two larger families cosegregate lymphedema and GJC2 mutation (LOD score = 6.

37 o chromosome 1 of Magnaporthe grisea between cosegregating markers CH5-120H and 1.2H and marker 5-10-

38 associated with parthenogenesis and that 11 cosegregating markers with univalent inheritance are com

39 A third family cosegregates mild mitral valve prolapse syndrome with a

40 This cosegregating missense change was in cis with the nonsen

41 otein 60 and RSV F protein, with the double, cosegregating mutant TLR4 exhibiting the greatest defici

42 sequencing in 2 cousins identified a single cosegregating mutation (p.R2G) in the beta-tubulin 4a (T

43 set, primary cervical dystonia to identify a cosegregating mutation.

44 e critical region, identifying only a single cosegregating, novel, nonsynonymous mutation, which resi

45 an, and two of these genes, Gna11 and Gna15, cosegregate on mouse chromosome 10.

46 upled system, which maximizes its entropy by cosegregating ordered protein and lipid domains.

47 l mismatches shows strand-specific mutations cosegregating roughly 80% of the time.

48 ng in independent large pedigrees identified cosegregating STX1B mutations predicted to cause an earl

49 The results of our current study of a family cosegregating the 167delT allele of GJB2 and severe DFNB

50 These disorders cosegregate with a chromosome 1;11 translocation in a Sc

51 one of these genes and that these mutations cosegregate with a defect in phototropism after genetic

52 cotinic acetylcholine receptor subunit genes cosegregate with a partial epilepsy syndrome known as au

53 romosome 17 in a second mutant, was found to cosegregate with a short petiole mutant phenotype, and t

54 uting proline for histidine 90, was found to cosegregate with a similar clinical syndrome in an ethni

55 r mutations that might alter CO activity and cosegregate with AD.

56 e is achieved, and we found that the two QTL cosegregate with an Al-activated release of malate from

57 Mutations in presenilin 1 (PS1) cosegregate with approximately 25% of early onset famili

58 pes are found among patients with ataxia and cosegregate with ataxia when multiple family members are

59 mutant alleles of TRIOBP on chromosome 22q13 cosegregate with autosomal recessive nonsyndromic deafne

60 ermore, the AMACR sequence variants strongly cosegregate with CaP in HPC families (log of odds = 3.78

61 ransversion in exon 6 of CRYBB1 was found to cosegregate with cataract in the family.

62 entified in one diabetic subject but did not cosegregate with diabetes within the family.

63 (p.Tyr245Cys) was found to occur de novo or cosegregate with disease in five individuals (families 1

64 rm of the amyloid precursor protein (APP695) cosegregate with disease phenotype in families with domi

65 Several mutations in the AE1 gene cosegregate with dominant dRTA.

66 in MEF2A revealed that the mutation did not cosegregate with early CAD.

67 was unique for HBCE cell tropism and did not cosegregate with either macrophage or T-cell line tropis

68 Mutations within the FGD1 locus cosegregate with faciogenital dysplasia, a multisystemic

69 BrFLC1, BrFLC2, and BrFLC5 cosegregate with flowering-time loci evaluated in popula

70 A polymorphism associated with cit1 did not cosegregate with fruit acidity indicating that acitric,

71 atch repair protein hMSH2 have been found to cosegregate with hereditary nonpolyposis colorectal canc

72 nd a higher level of alpha-zein was found to cosegregate with high eEF1A content.

73 Missense mutations in ACTC that cosegregate with IDC were identified in two unrelated fa

74 nsertion sites, His2 and Frat1, and does not cosegregate with known gene markers.

75 odomain of the metalloprotease, ADAM10, that cosegregate with late-onset AD (LOAD).

76 nction (LOF) mutations in PPARG are known to cosegregate with lipodystrophy and insulin resistance; i

77 d permeability/accessibility of the channels cosegregate with M1.

78 Three human diseases cosegregate with microsatellite markers used in construc

79 polymorphism, but this polymorphism does not cosegregate with mouse lung tumor susceptibility.

80 he identification of flanking sequences that cosegregate with mutant phenotypes caused by Mu insertio

81 containing missense mutations that perfectly cosegregate with nemaline myopathy in the studied famili

82 o Hirschsprung disease (a condition that can cosegregate with neuroblastoma) susceptibility genes, RE

83 and in 0 of 100 control subjects but did not cosegregate with obesity in family studies.

84 different microdeletions encompassing exons cosegregate with SGBS.

85 MR) genes hMLH1 and hMSH2 have been shown to cosegregate with the colorectal cancer phenotype in mult

86 ness demonstrate that this phenotype did not cosegregate with the compound-heterozygous genotype M34T

87 Mutations in the tau gene are known to cosegregate with the disease in frontotemporal dementia

88 control individuals (440 chromosomes) but do cosegregate with the disease in these families with STGD

89 ikely to be pathogenic, because they did not cosegregate with the disease or did not affect conserved

90 Moreover, the risk allele did not cosegregate with the disease phenotype in any of the thr

91 Both mutations cosegregate with the disease phenotype in families, and

92 arkers flanking the GDF5 locus were found to cosegregate with the disease, and sequence analysis demo

93 in genes encoding presenilins (PS1 and PS2) cosegregate with the majority of early onset cases of fa

94 he presenilin 1 (PS1) and presenilin 2 genes cosegregate with the majority of early-onset familial Al

95 ects in this gene have been identified which cosegregate with the MHS phenotype and evidence as to th

96 chlorina1 alleles, and DNA sequence changes cosegregate with the mutant phenotype.

97 ause, wherein the pathogenic variants do not cosegregate with the phenotype.

98 le pathogenic variants that do not perfectly cosegregate with the phenotype.

99 own to localize to mouse chromosome 4 and to cosegregate with the thioredoxin gene.

100 Four genetic markers completely cosegregate with the trait and yield maximum logarithm o

101 Submicroscopic chromosome 7q11.23 deletions cosegregate with this phenotype in both families.

102 y about one-third of the insertion mutations cosegregated with a mutant phenotype.

103 The affected members in our family cosegregated with a novel missense mutation Cys694Arg th

104 was inherited as a single dominant locus and cosegregated with a restriction fragment length polymorp

105 The mutation cosegregated with a similar phenotype including partial

106 The Gly114Val and Gln184Pro alleles cosegregated with ADRP as expected if they were pathogen

107 s with >1 affected member, the novel variant cosegregated with AF.

108 Allele 1196T cosegregated with allele 896G and, thus, had identical a

109 othelial responses to minimally modified LDL cosegregated with aortic lesion size.

110 Surprisingly, 12 of the 13 markers strictly cosegregated with aposporous embryo sac development, cle

111 utation in CDH2 (c.686A>C, p.Gln229Pro) that cosegregated with ARVC in affected family members.

112 nservative R287W substitution in exon 4 that cosegregated with cataracts.

113 nse mutations and one nonsense mutation that cosegregated with congenital recessive deafness.

114 Z16 cosegregated with Ctv.

115 A heterozygous R6C mutation cosegregated with diabetes in a MODY family and is proba

116 TTN mutations cosegregated with dilated cardiomyopathy in families (co

117 The mutation cosegregated with disease in all tested individuals and

118 The mutations cosegregated with disease in both families.

119 nalysis showed that this splice site variant cosegregated with disease in the family.

120 gene (c.893T > G encoding p.Met298Arg) that cosegregated with disease in the family.

121 ur unrelated patients; none of these changes cosegregated with disease in the respective families.

122 re compound heterozygotes for mutations that cosegregated with disease in the respective families.

123 e 6, with a novel 40 bp exon 3 deletion that cosegregated with disease.

124 taining 9-like gene (SAMD9L) that completely cosegregated with disease.

125 with five novel mutations in this gene that cosegregated with disease.

126 e, 11 heterozygous PIEZO1 missense mutations cosegregated with disease.

127 ified three distinct in-frame deletions that cosegregated with disease.

128 e dominant kindred, the mutation Arg-589/Ser cosegregated with dRTA in the extended pedigree.

129 ffectively ill probands than in controls and cosegregated with familial depression.

130 DNAs from normal individuals and no variant cosegregated with familial disease.

131 8G > T (p.V60L), at chr12:133,196,029, which cosegregated with fully penetrant hearing loss in the in

132 lysis demonstrated a TPM1 mutation V95A that cosegregated with HCM.

133 ome 17 (D17Mit21) and chromosome 1 (D1Mit33) cosegregated with high tumor multiplicity in both sexes.

134 Although this phenotype cosegregated with homozygosity for the inactive SerpinB2

135 on corresponding to S48P substitution, which cosegregated with inheritance of HCM (N=6).

136 Each mutant's phenotype cosegregated with its respective ura4+ transgene.

137 utations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family t

138 ity and expression of MMP-9 but not of MMP-2 cosegregated with macrophage FCs in aortic lesions.

139 In 2 of the 12 families the disorder cosegregated with markers flanking a candidate locus, FL

140 nown melanoma genes (e.g., PARP1, CDKN2A) or cosegregated with melanoma (duplication on 10q23.23, 3p1

141 d an insert in the AMT4 gene, and the insert cosegregated with methylammonium resistance in genetic c

142 onsanguineous pedigree in which cornea plana cosegregated with microphthalmia was investigated by lin

143 s affecting the same amino acid, Lys558, CMT cosegregated with neutropenia, which has not previously

144 lomere polymorphisms identified using I-Ppol cosegregated with NOR2 and NOR4.

145 d investigated the extent to which mutations cosegregated with obesity and affected receptor function

146 SIM1 variants with reduced activity cosegregated with obesity in extended family studies wit

147 tification of one element (called PIFa) that cosegregated with PIF activity.

148 ertion in the promoter region of CitRWP that cosegregated with polyembryony.

149 ith pancreatic cancer, high NRP-2 expression cosegregated with poor prognosis.

150 .1037C > T (Ser346Phe or S346F; rs149019598) cosegregated with PTC in the family.

151 ense mutation and a frameshift mutation that cosegregated with pulmonary disease in the two families.

152 ed as a single, partially dominant trait and cosegregated with reduced levels of PAL activity and sol

153 The mutations cosegregated with retinitis pigmentosa in the studied fa

154 All of these mutations cosegregated with RP in the families of the index patien

155 ariants of this gene family (Tim) completely cosegregated with Tapr.

156 Variants cosegregated with the affected phenotype, and cumulative

157 The variant cosegregated with the affected status in the family.

158 ll four rf1-m alleles in male-sterile plants cosegregated with the altered steady-state accumulation

159 oding the Nav1.5 sodium channel protein that cosegregated with the arrhythmia phenotype.

160 A polymorphism within the rat Nramp2 gene cosegregated with the b phenotype.

161 Markers across this interval also cosegregated with the BDB phenotype in the English famil

162 -Mb) interval flanked by D19S928 and D19S420 cosegregated with the cataract locus.

163 novel MnlI restriction-enzyme site that also cosegregated with the cataract.

164 The mutation precisely cosegregated with the clinical syndrome in all the affec

165 usly diagnosed with nonsyndromic arRP, which cosegregated with the disease among the family members.

166 ion G-->T at open reading frame (ORF)15+1164 cosegregated with the disease and may create a donor spl

167 a novel SNCA G51D (c.152 G>A) mutation that cosegregated with the disease and was absent from contro

168 utation, c.7570-1G>C (p.Glu2524_Lys2525del), cosegregated with the disease in a family with three aff

169 6T) in the centriolar protein gene POC5 that cosegregated with the disease in a large family with mul

170 0-cM region between D16S748 and D16S769 that cosegregated with the disease in each pedigree.

171 Each mutation cosegregated with the disease in four families with DNA

172 is revealed a novel missense mutation, which cosegregated with the disease in the family (lod score:

173 This variant strictly cosegregated with the disease phenotype and was absent i

174 The sequence change cosegregated with the disease phenotype and was not dete

175 e voltage-gated potassium channel KCND3 that cosegregated with the disease phenotype in our original

176 This mutation, Pro857Arg-CACNA1C, cosegregated with the disease within the pedigree, was r

177 6 of the calcium-channel gene CACNA1A, which cosegregated with the disease.

178 ons in the Ca(2+)-sensing receptor gene that cosegregated with the disorder.

179 Whereas the MCT12 mutation cosegregated with the eye phenotype, poor correlation wi

180 ted regions (DMRs) revealed that DMRs mostly cosegregated with the genotype from which they were deri

181 ms at the pro alpha 1(V) gene (COL5A1) locus cosegregated with the gravis form of Ehlers-Danlos syndr

182 nucleotide 2114, a G-->A transposition that cosegregated with the inherited autosomal dominant heari

183 In vivo susceptibility to infection cosegregated with the inherited mA3 allele in a C57BL/6

184 The aj6/aj6 ORF showed an R201C change that cosegregated with the lack of leaf urease activity in a

185 ia established that the ascorbate deficiency cosegregated with the NPQ phenotype.

186 change is at a highly conserved residue and cosegregated with the phenotype in the family.

187 TNFRSF13B mutations cosegregated with the phenotype of CVID or IgAD in famil

188 performed to exclude any other variant that cosegregated with the phenotype.

189 ous stop mutation in the homeodomain of MSX1 cosegregated with the phenotype.

190 utation, MASP1 c.870G>A (p.W290X), that also cosegregated with the phenotype.

191 se mutation, MASP1 c.2059G>A (p.G687R), that cosegregated with the phenotype.

192 of an evolutionarily conserved gene, Mon1a, cosegregated with the QTL in congenic mouse lines.

193 This phenotype cosegregated with the RNAi transgene.

194 Occurrence of familial renal disease cosegregated with the same mutation in the complement fa

195 f immunologically detectable oat phytochrome cosegregated with the short-hypocotyl trait.

196 (p.Arg52Leu) in the GNB2 gene that strictly cosegregated with the SND+AVB phenotype.

197 Each mutation cosegregated with the syndromic phenotype in other affec

198 dls1 is a monogenic recessive mutation that cosegregated with the T-DNA insertion.

199 The long transfer DNA cosegregated with the T-region encoded hygromycin resist

200 Strikingly, during cell division, CD133 cosegregated with the template DNA, whereas the differen

201 This deletion completely cosegregated with the trait (Zmax = 6.92, theta = 0).

202 ecene produced (nivalenol or deoxynivalenol) cosegregated with the TRI5 gene (which encodes trichodie

203 uations demonstrated that the Carney complex cosegregated with the trismus-pseudocamptodactyly syndro

204 within the alternate translation start site cosegregated with the XPID phenotype in this family; how

205 Truncating mutations in FLNC cosegregated with this phenotype with a dominant inherit

206 red WL females, the cloned ALV receptor gene cosegregated with two markers linked to tvb.

207 ping populations and markers based on PEAFLO cosegregated with uni in segregating sibling populations

208 skeletal muscle sodium channel mutant I1160V cosegregates with a disease phenotype producing myotonic

209 autosomal dominant retinal degeneration that cosegregates with a large inversion spanning nearly all

210 r development - established that the disease cosegregates with a SINE insertion in exon 4 of the cani

211 Lhermitte-Duclos disease (LDD) cosegregates with a subset of CD families and is associa

212 a homozygous mutation, R391H, in NUP155 that cosegregates with AF, affects nuclear localization of NU

213 which is within a donor splice junction and cosegregates with affected members.

214 t the need for a TGN marker that universally cosegregates with all cargo.

215 indred in which sensorineural deafness (SND) cosegregates with an infantile variant of the BS phenoty

216 s: the mutation affecting aat2 maps with and cosegregates with ASP2, one of two expressed genes for c

217 mbined with the finding that the F3'5'H gene cosegregates with b in a genetic mapping population, str

218 eletion harboring six genes on chromosome 5H cosegregates with bcd1-specified cell death and is assoc

219 This polymorphism fully cosegregates with both the presence of mesifurane and th

220 erestingly, mmGCN5 maps to chromosome 11 and cosegregates with BRCA1, and mmP/CAF maps to a central r

221 Linkage analysis showed that the cdf gene cosegregates with D6Mit208, D6Mit359, and D6Mit225.

222 tution in the HD1 domain of the protein that cosegregates with disease.

223 Ant2 cosegregates with DXMit49 and DXMit50 and lies distal to

224 monstrate that genetic variation within FGF1 cosegregates with elevated blood pressure in hypertensiv

225 In both cases, pla genotype cosegregates with expression of multiple genes in the an

226 n of chromosome 7 containing the leptin gene cosegregates with extreme obesity; however, leptin codin

227 e mutation generates a novel Msp I site that cosegregates with fa in 1,028 meioses examined in obese

228 A missense desmin mutation, Ile451Met, which cosegregates with FDCM without clinically evident skelet

229 t-cell stage onward before it preferentially cosegregates with Gata6 in PrE progenitors.

230 sin/kexin type 2 gene (Pcsk2; formerly Nec2) cosegregates with H3b in a high-resolution backcross pan

231 The disease cosegregates with homozygous mutations in five families

232 lele, found in some U.S. maize inbred lines, cosegregates with internal processing of CMS-S mitochond

233 We identified families where melanoma cosegregates with loss-of-function variants in the prote

234 as the sole gene whose ORF is truncated and cosegregates with major mental illnesses in a Scottish f

235 e analysis, the DRS phenotype in each family cosegregates with markers spanning the DURS2 region.

236 nked by D10Mit10 and D10Mit162/D10Mit122 and cosegregates with mast cell growth factor (Mgf).

237 the promoter region of the HNF-1 alpha gene cosegregates with MODY.

238 the 3'-acceptor splice site of exon 8, which cosegregates with mouse strain Pas1 alleles and may unde

239 ic and acquired resistance to crizotinib and cosegregates with MYCN in neuroblastoma.

240 nt within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino

241 a-synuclein, cardiac sympathetic denervation cosegregates with parkinsonism.

242 the family, named type III photolyase, which cosegregates with plant cryptochromes.

243 ch contains an APETALA2 (AP2)-like gene that cosegregates with Q.

244 ndonuclease analysis shows that the disorder cosegregates with recessive inheritance of a single poin

245 n genetic mapping established that NBSRps4/6 cosegregates with Rps4.

246 lation efficiency in laboratory strains also cosegregates with significant phenotypic differences in

247 The oligomeric alpha-helical protein cosegregates with the cholesterol-poor domains in phase

248 re confirming that the sensitivity phenotype cosegregates with the deletion allele and are obtaining

249 ich when mutated in its Dbl homology domain, cosegregates with the developmental disease Aarskog-Scot

250 by a missense mutation in the PGRN gene that cosegregates with the disease and with the disease haplo

251 change in the betaB3-crystallin protein that cosegregates with the disease in both families.

252 in a methionine to valine substitution which cosegregates with the disease in these families.

253 fected relatives; in Patient 3, the mutation cosegregates with the disease in three generations.

254 -centimorgan region on chromosome 11q23 that cosegregates with the disease state (maximum multipoint

255 lar cataract (PPC) and a PITX3 mutation that cosegregates with the disease was examined.

256 This mutation cosegregates with the disease, being present in all 14 l

257 e residue at position 145 with a glycine and cosegregates with the disease.

258 ic palindrome site at Xq27.1 that completely cosegregates with the disease.

259 ene exerting a dominant negative effect that cosegregates with the EB phenotype in an extended family

260 abidopsis gdh-deficient mutant allele gdh1-1 cosegregates with the GDH1 gene and behaves as a recessi

261 It alters KCNH2 splicing and cosegregates with the LQT2 phenotype.

262 We show that the STE20a gene cosegregates with the MATa mating type in genetic crosse

263 Tetrad analysis verified that the defect cosegregates with the mutant actin gene.

264 of radial spoke assembly, and the phenotype cosegregates with the mutant RSP3.

265 ed strains of mice, and its splicing pattern cosegregates with the Pas1 allele.

266 ce site mutation (c.102-1G>A) that perfectly cosegregates with the phenotype in the family.

267 donor-site mutation in the COL11A1 gene that cosegregates with the phenotype.

268 The lut2 locus cosegregates with the recently isolated epsilon cyclase

269 lymorphism caused by this deletion perfectly cosegregates with the sl phenotype.

270 the mtw1-1 mutant yeast strain, the plasmid cosegregates with the spindle and the spindle-associated

271 increased incidence of HCC, and that the HCC cosegregates with the Txnip mutation.

272 er extent and act as a genetic modifier when cosegregating with a deleterious p16 gene.

273 Here we report ABL1 germline variants cosegregating with an autosomal dominant disorder charac

274 transition (c.481G-->A) in exon 3 of CHMP4B cosegregating with autosomal dominant posterior polar ca

275 linked congenital generalized hypertrichosis cosegregating with deafness and with dental and palate a

276 ntification of a functional CACNA1C mutation cosegregating with disease in a single pedigree suggests

277 dentification of the same Ser181Cys mutation cosegregating with disease in each family led us to cons

278 ture stop codon mutation c.157C>T (p.Gln53*) cosegregating with disease was discovered within SCO2 th

279 We describe three INS mutations cosegregating with early-onset diabetes whose clinical p

280 plified fragment length polymorphisms (AFLP) cosegregating with fusibility, used these markers to ind

281 Haplotypes cosegregating with JP in each family were constructed, a

282 e in chromatin and nuclear matrix fractions, cosegregating with Msx2 and topoisomerase II.

283 ermination locus with a total of 225 markers cosegregating with sex types.

284 domain, proved to be the only mutation fully cosegregating with the cardiomyopathic trait in 18 addit

285 which Duchenne muscular dystrophy (DMD) was cosegregating with the inversion.

286 dependent protein kinase, the mutated allele cosegregating with the macrothrombocytopenia.

287 (p.C492Y), as the only nonsynonymous variant cosegregating with vibratory urticaria in two large kind

288 to specific nucleolar organizer regions and cosegregate within nucleolar caps of actinomycin d-treat

289 hyperdiploidy to determine how these lesions cosegregate within the clonal substructure, and we have

290 Three of the mutations cosegregate within three RP13 linked families including

291 This new allele cosegregated within an extended kindred with reduced TPM