ライフサイエンスコーパス: heterozygote

1 u (reported in the ExAC database in a single heterozygote).

2 otes) and 25 family B members (10 men and 15 heterozygotes).

3 knockout mice than in controls (wild-type or heterozygotes).

4 elevant to cancer in FANC-mutation carriers (heterozygotes).

5 t the underlying T1 was a nonchimeric double heterozygote.

6 ss-of-function, but present in either single heterozygote.

7 into greater than half of the offspring of a heterozygote.

8 in yeast) that do not inherit the gene from heterozygotes.

9 ng slightly biased toward the risk allele in heterozygotes.

10 mozygotes and markedly increased VTE risk in heterozygotes.

11 of ectopic filopodia is increased in Sema2a heterozygotes.

12 rosophila with 88-95% transmission by female heterozygotes.

13 ies this improves the resolution of compound heterozygotes.

14 ed with protection against severe malaria in heterozygotes.

15 ically depleted for meiotic recombination in heterozygotes.

16 explaining why the former is dominant in A/C heterozygotes.

17 ed in homozygotes, whereas it is buffered in heterozygotes.

18 nd higher levels of HDL cholesterol than did heterozygotes.

19 mutant alleles are outcrossed to produce F1 heterozygotes.

20 identified with POLG2-related disorders are heterozygotes.

21 ants in genes likely to cause a phenotype in heterozygotes.

22 lar to Irf6 hypomorphic mutants and Arhgap29 heterozygotes.

23 cardiac lymphatic abnormalities in compound heterozygotes.

24 have identified arrhythmic phenotypes among heterozygotes.

25 generating viable mice in crosses of double heterozygotes.

26 e pattern of selection against interspecific heterozygotes.

27 eption, even in apparently clinically silent heterozygotes.

28 +/- 5% of the total PrP from the G(96)/S(96) heterozygotes.

29 zygotes, intermediate deficits being seen in heterozygotes.

30 ygotes had lower enzymatic activity than GBA heterozygotes (0.85 micromol/l/h versus 7.88 micromol/l/

31 combined P = 3.4 x 10(-7); relative risk to heterozygote: 1.6, 95% CI: 1.4-2.0) and between LSLs and

32 combined P = 6.3 x 10(-7); relative risk to heterozygote: 1.6, 95% CI: 1.4-2.0).

33 omozygotes and compound heterozygotes and 81 heterozygotes, 17.0% versus 17 heterozygotes, 6.7%, P <

34 inically insignificant except in G6PD female heterozygotes, 2 of whom had hematocrit reductions to <2

35 combined P = 4.0 x 10(-9); relative risk to heterozygote: 2.6, 95% CI: 1.9-3.7).

36 ygotes and 81 heterozygotes, 17.0% versus 17 heterozygotes, 6.7%, P < 0.001).

37 ble plasma levels was observed in Hhip (+/-) heterozygotes; a strong gene-by-smoking association was

38 ests for tests of variants with less than 20 heterozygotes across the sample, regardless of the total

39 selection and can cause a balanced state via heterozygote advantage (the staggered phase), and (iii)

40 Heterozygote advantage and negative frequency-dependent

41 Apparent heterozygote advantage at the neutral locus is, however,

42 With heterozygote advantage at the selected locus, loss of va

43 for the observed high inbreeding depression, heterozygote advantage could not be excluded.

44 susceptible (OR=3.26; P=0.006), suggesting a heterozygote advantage effect.

45 Examples of heterozygote advantage in humans are scarce and limited

46 enetic drift, migration, constant selection, heterozygote advantage or negative frequency-dependent s

47 mentals (pseudo-overdominance) and intrinsic heterozygote advantage was examined and compared with th

48 ognition, overdominance (also referred to as heterozygote advantage) has been suggested as the main d

49 aintenance of polymorphism by overdominance (heterozygote advantage) is a fundamental concept in evol

50 We find a heterozygote advantage, resulting in higher fitness for

51 as negative frequency-dependent selection or heterozygote advantage.

52 sity and healthy aging could be explained by heterozygote advantage.

53 t AID mutations (AD-AID), asymptomatic AICDA heterozygotes (AID+/-), and patients with uracil N-glyco

54 Surprisingly, asy1/+ heterozygotes also remodel crossovers toward subtelomeri

55 ined 437 SNPs in the 3'UTR with at least one heterozygote among the subjects studied.

56 ase cohort, we confirmed the effects of PI Z heterozygote and compound heterozygote genotypes.

57 e genotypes at Sema3d locus, and Sema3d null heterozygote and homozygote mice had normal intestinal i

58 6P9a-RR) developed significantly slower than heterozygote and homozygote susceptible mosquitoes (chi(

59 enotype that is more severe than each single heterozygote and indistinguishable from that of the cond

60 ening (heterozygote, homozygote, or compound heterozygote and mtDNA homoplasmy or heteroplasmy), amon

61 Survival rates of Ret wild-type, null heterozygote and null homozygote mice at E12.5, birth an

62 ng 36 CPVT probands (24 homozygotes/compound heterozygotes and 12 heterozygotes) and 76 family member

63 pared clinical information from 111 compound heterozygotes and 131 individuals with homozygous expans

64 We identified 1661 heterozygotes and 17 homozygotes for the E40K variant an

65 18/26 (69.2%) classified as mild were beta heterozygotes and 17/18 (94.4%) had excess alpha globin

66 onfidence interval [CI], 1.70 to 2.56) among heterozygotes and 5.70 (95% CI, 4.66 to 6.97) among homo

67 /12 (91.6%) classified as moderate were beta heterozygotes and 8/11 (72.2%) had excess alpha globin g

68 or variants (seven homozygotes and compound heterozygotes and 81 heterozygotes, 17.0% versus 17 hete

69 : The role of PI (protease inhibitor) type Z heterozygotes and additional rare variant genotypes in t

70 cores were observed between patients with GD/heterozygotes and controls (all P < .05).

71 nt with a model of balanced selection, where heterozygotes and homozygotes have higher and lower repr

72 e demonstrate that disease manifests in both heterozygotes and homozygotes, indicating a common colla

73 In both heterozygotes and homozygotes, levels of calreticulin pr

74 pheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively.

75 lesterol and low HDL-cholesterol in compound heterozygotes and homozygous individuals, decrease rever

76 re we show that mutation rates are higher in heterozygotes and in proximity to crossover events.

77 On average, c.1141G>C heterozygotes and individuals homozygous for rs532464664

78 We found that both human APOC3 A43T heterozygotes and mice expressing human APOC3 A43T displ

79 tant mice exhibit earlier seizure onset than heterozygotes and more rapid progression to death.

80 reflect the strength of selection acting on heterozygotes and not dominance or haploinsufficiency.

81 1 p.G411S carriers compared to PINK1 p.Q456X heterozygotes and PINK1 wild-type controls under endogen

82 random sampling of homologous base pairs in heterozygotes and sequencing or alignment errors.

83 of-function variants that are deleterious as heterozygotes and those causing disease only in the homo

84 plasma, urine, and lung tissue of Hhip (+/-) heterozygotes and wild type (Hhip (+/+)) C57/BL6 mice ex

85 ted ALV-J-resistant, in contrast to DeltaW38 heterozygotes and wild-type birds, which were ALV-J-susc

86 s in GJB2 or SLC26A4 (homozygote or compound heterozygote) and 10 of those infants passed newborn hea

87 utations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 he

88 24 homozygotes/compound heterozygotes and 12 heterozygotes) and 76 family members possessing at least

89 from NPC1 (untreated and miglustat treated), heterozygote, and healthy control subjects.

90 rols and genotyped for Hp, hemoglobin (Hb) S heterozygotes, and alpha(+)thalassemia.

91 provide a better way of identifying superior heterozygotes, and quantifying the advantages of genetic

92 included individuals with complete (compound heterozygote) ANGPTL3 deficiency, a population based-stu

93 pulation based-study of humans with partial (heterozygote) ANGPTL3 deficiency, and biomarker levels i

94 variants correctly, often mistakenly calling heterozygotes as reference homozygotes.

95 result in an apparent selective advantage to heterozygotes at the neutral locus (associative overdomi

96 a-related phenotypes were observed in double heterozygotes, but all three double homozygous mutant li

97 tch-that developed postnatally in wild-types/heterozygotes, but not in knockouts.

98 We find that this variant reduces height in heterozygotes by an average of 4.2 cm (-0.64 s.d.).

99 362A>T [p.His121Leu]) and another a compound heterozygote (c.79T>C [p.Tyr27His] and c.217_225del [p.V

100 ed in WT, ~40% of PT synapses tested in Q175 heterozygotes can be classified as dysfunctional.

101 controls (0.225 mmol trolox equivalent) and heterozygote carriers (0.181 mmol trolox equivalent), an

102 s (150/314) of valine at position 11, 61% of heterozygote carriers (130/213), and 74% of homozygote c

103 The heterozygote carriers are all female.

104 Affected NPC1 patients and NPC1 heterozygote carriers had reduced NK-cell numbers in the

105 analyzing 8,711 individuals, we showed that heterozygote carriers of this low-frequency variant have

106 ce of the pathogenic mutants suggesting that heterozygote carriers presumably do not show symptoms re

107 ients] with moderate or good EULAR response; heterozygote carriers: 81% [698/866]; and homozygote car

108 P and higher heart rate than noncarriers and heterozygote carriers; they also had significantly highe

109 Heterozygotes carry the genetic information for two diff

110 Furthermore, compound heterozygotes carrying the Bmp7(R-G) allele together wit

111 cs analyses revealed the bull was a compound heterozygote, carrying one naturally occurring P(C) Celt

112 Relative to CASQ2 heterozygotes, CASQ2 homozygote/compound heterozygote ge

113 B15/B21 heterozygote cells show much greater expression of B15 c

114 ssion of an alternative isoform of HBP1 in a heterozygote chondrosarcoma cell line, in a CRISPR-edite

115 Among CASQ2 homozygotes and compound heterozygotes, clinical penetrance was 97.1% and 26 of 3

116 Glucocerebrosidase activity was reduced in heterozygotes compared to non-carriers when each mutatio

117 of the CO network showed higher activity in heterozygotes compared with both types of homozygotes du

118 nt scores were lower in patients with GD and heterozygotes compared with controls, but they did not d

119 sex-adjusted hazard ratio for CHEK2*1100delC heterozygotes compared with noncarriers was 2.08 (95% CI

120 For CHEK2*1100delC heterozygotes compared with noncarriers, the age- and se

121 A1.Measurements and Main Results: White PI Z heterozygotes confirmed by sequencing (MZ; n = 74) had l

122 e more pronounced in homozygous mice than in heterozygotes, consistent with the earlier age of seizur

123 There is increasing evidence that heterozygotes containing genetically divergent alleles a

124 The severity of myofibril defects in heterozygotes correlated with the level of flight impair

125 sed embryonic mortality compared with single heterozygote crosses.

126 ion, we detected 25 RAD loci showing extreme heterozygote deficiency in females but which were in Har

127 Additionally, doc2a+/- fam57ba+/- double heterozygotes demonstrate the increased body length and

128 p.R114W has reduced penetrance; only 54% of heterozygotes developed diabetes by age 30 years compare

129 Homozygotes, but not heterozygotes, developed Parkinson signs in the middle a

130 p.R114W heterozygotes did not have the increased birth weight of

131 Single doc2a+/- and fam57ba+/- heterozygotes do not show a body size increase; however,

132 of APOE4 - 20 APOE4 homozygotes (E4/E4), 20 heterozygotes (E3/E4) and 20 non-carriers (E3/E3) - to d

133 The mortality of the FGF8/Fbln1 double heterozygote embryos occurred between 14.5 and 16.5 days

134 and Cofilin genetically interact, as double heterozygotes exhibit a reduction in the number of nurse

135 nical nuclear Notch pathway inhibitor, and H heterozygotes exhibit bristle cell fate phenotypes refle

136 nd 122, are lethal when homozygous and adult heterozygotes exhibit dominant neural dysfunction.

137 are early embryo lethal, but Matr3(Gt-ex13) heterozygotes exhibit incompletely penetrant BAV, CoA an

138 int patterns of twitching; again, wild-types/heterozygotes exhibited developmental changes in twitch

139 In compound heterozygotes, expression of partially functional mutant

140 ols (2.66 units/mg protein) and samples from heterozygote female carriers (1.91 units/mg protein), pa

141 ts with cALD or adrenomyeloneuropathy (AMN), heterozygote female carriers, and healthy controls and,

142 ospectively collected from healthy controls, heterozygote female carriers, and patients with AMN or c

143 patients who received a diagnosis of ALD and heterozygote female carriers, both of which groups were

144 bility is not restored in homozygotes, young heterozygotes fly well.

145 e fetus with renal microcysts was a compound heterozygote for p.Glu643Ala and p.Asn800Lys, and one ch

146 ith complete PCSK9 deficiency (each compound heterozygote for PCSK9 p.Y142X and p.C679X) were identif

147 Two individuals were compound heterozygotes for a previously reported point mutation i

148 Haplotype analysis of 4 homozygotes and 11 heterozygotes for c.5461-10T-->C and sequence analysis o

149 howed that VEC-specific conditional compound heterozygotes for Crim1 and Vegfa exhibit a phenotype th

150 Nineteen white heterozygotes for five non-S/Z coding variants associate

151 rothrombin G20210A; 8.2% (5.5%) for compound heterozygotes for FVL and prothrombin G20210A; 9.0% (6.1

152 l in revealing predisposing abnormalities in heterozygotes for GBA1 mutations and demonstrating the d

153 cblC deficiency were homozygous or compound heterozygotes for mutations in the methylmalonic aciduri

154 gs of Moroccan Jewish ancestry were compound heterozygotes for p.A33D and p.P134R, and 6 patients bel

155 ulomegaly and renal microcysts were compound heterozygotes for p.Asn800Lys and p.Trp759Ter, one fetus

156 computed tomography-confirmed emphysema were heterozygotes for the Ala455Thr mutation.

157 were markedly reduced in homozygotes but not heterozygotes for the Pro90Ser CD36 mutation, whereas wh

158 is analysis revealed profound differences in heterozygote frequencies among populations (allele frequ

159 sease is highly prevalent in Ashkenazi Jews (heterozygote frequency, approximately 9%), whereas it is

160 polymorphism balanced through protection of heterozygotes from malaria mortality.

161 We found that heterozygote GALC mutant mice have reduced myelin debris

162 nces occur in Ednra(+/-); Plxna4(+/-) double heterozygotes, genetically confirming functional interac

163 Human participants with the heterozygote genotype also had subtle alterations in the

164 SQ2 heterozygotes, CASQ2 homozygote/compound heterozygote genotype status in probands was associated

165 pants in the 3C-Dijon cohort (0.4%) carrying heterozygote genotypes at known pathogenic variants for

166 ern alleles is consistent with the excess of heterozygote genotypes at the supergene locus controllin

167 he effects of PI Z heterozygote and compound heterozygote genotypes.

168 We also considered ambiguity in polyploid heterozygote genotyping and developed a weighting method

169 is in relation to G6PD genotype and that the heterozygote groups were small.

170 fewer FDL lesions were found in both double heterozygote groups, indicating a partial restoration of

171 the expected PKA-II decrease in both double heterozygote groups.

172 1) homozygous expansions, and three compound heterozygote groups; (2) null (no frataxin produced); (3

173 a significant genotype main effect (wildtype>heterozygote>null mutant).

174 Family A and family B heterozygotes had less severe or no clinical manifestati

175 ersus 7.88 micromol/l/h, P < 0.001), and GBA heterozygotes had lower enzymatic activity than GBA and

176 GBA homozygotes/compound heterozygotes had lower enzymatic activity than GBA hete

177 C213Y heterozygotes had significantly decreased overall Prph2

178 The null group of compound heterozygotes had significantly earlier age of onset and

179 In contrast, heterozygotes had their fertility life table parameters

180 and sinus-node dysfunction, whereas related heterozygotes harboring missense variants presented with

181 Human AIP heterozygotes have episodic acute neurovisceral attacks

182 RFX6 heterozygotes have reduced penetrance of diabetes compar

183 e loss; however, SE(del)/knockout (KO) trans heterozygotes have thin optic nerves.

184 ng both the rare and common TomLoxC alleles (heterozygotes) have higher TomLoxC expression than those

185 n (>14 years): 4 homozygotes and 17 compound heterozygotes (hereafter referred to as carriers) and 23

186 position grafts, using wild type (WT) or A20 heterozygote (HET) C57BL/6 (H-2) donors and BALB/c (H-2)

187 4.508%) were positive for genetic screening (heterozygote, homozygote, or compound heterozygote and m

188 nt (e756del), we compared phenotypes between heterozygotes, homozygotes, and wildtypes.

189 Recently, heterozygote human FLI1 mutations have been ascribed to

190 Placing these heterozygotes in higher Nutlin-3a doses selected clones

191 el pathogenic MTHFR mutations, 2 as compound heterozygotes in one family and 1 as a homozygous mutati

192 duals in the human population are functional heterozygotes in that D17Z1 is the active centromere on

193 p between 2 and 6 months of age in Q175 male heterozygotes, indicating early effects of the HD mutati

194 der decrease in neurogenesis was observed in heterozygotes, indicating SOX2 levels are important.

195 dings suggest that altered P2X7R function in heterozygote individuals disturbs sleep and might increa

196 efficient, with 91% of the progeny of drive heterozygotes inheriting the drive allele and with no fu

197 g mutations; engineering these mutations, as heterozygotes, into the ancestral diploid strain caused

198 ck-in (KI) mice containing the A8V mutation (heterozygote=KI-TnC-A8V(+/-); homozygote=KI-TnC-A8V(+/+)

199 albicans yeast and hyphal kinesin-5 (Kip1p) heterozygotes (KIP1/kip1), we found that mutant spindles

200 ion did not have a gross phenotype, compound heterozygote knockout (KO) and KI mP215L mice were gener

201 icrobiota in ovariectomized ob/ob (obese) or heterozygote (lean) mice fed high-fat diet (HFD) that re

202 cles compared to the titers in wild-type and heterozygote littermates.

203 Interestingly, heterozygote males were also more competitive than homoz

204 Kdr heterozygote males were more likely to mate than homozyg

205 partially recessive mutations or in favor of heterozygotes, may result in an apparent selective advan

206 e, 0.93; mean follow-up, 2.93; P < .001) and heterozygotes (mean baseline, 0.10; mean follow-up, 2.30

207 e, 4.29; mean follow-up, 7.82; P < .001) and heterozygotes (mean baseline, 1.97; mean follow-up, 4.50

208 Armc5 heterozygote mice (Armc5+/-) developed normally but at t

209 We used elastin heterozygote mice (Eln(+/-) ) as a model of increased la

210 In vivo, inadequate A20 expression in A20 heterozygote mice aggravated intimal hyperplasia followi

211 Compound heterozygote mice already have reduced numbers of myelin

212 nockout mice and found that when EdnrB (-/+) heterozygote mice are treated with lower levels of oxyge

213 old age, we now report that Nmnat2 compound heterozygote mice present with early and age-dependent p

214 e cell cycle in mammary epithelial cells and heterozygote mice spontaneously develop mammary tumors.

215 By 30 d, Tmc1 pD569N heterozygote mice were profoundly deaf, and there was su

216 In cardiac-specific Bin1 heterozygote mice, isoproterenol fails to concentrate BI

217 nce tests, with intermediate effects in Nat1 heterozygote mice.

218 In the present study, we report on a heterozygote mutation in ELOVL4 in affected individuals

219 mutations and Parkinson's disease (PD), with heterozygote mutations in GBA1 considered the commonest

220 fied an FH patient presenting novel compound heterozygote mutations R410S and G592E of the LDL recept

221 (+/-), PlexinA2(+/-) neurons, but not single-heterozygote neurons, are rescued from Nogo-A inhibition

222 arly postnatal to adult ages in female Mecp2 heterozygotes of the conventional Bird line (Mecp2tm1.1b

223 function alleles of dysb, Blos1, or compound heterozygotes of these alleles impaired neurotransmitter

224 ids of the selected and susceptible strains (heterozygotes) on DAS-444O6-6 x DAS-81419-2 soybean with

225 (GNPAT) polymorphism p.D519G (rs11558492; 15 heterozygotes, one homozygote).

226 sed virus-induced mortality compared to Asyn heterozygote or homozygote control mice.

227 s, whereas healthy family members are either heterozygote or homozygote for the reference allele.

228 d Wnt (MMTV-Wnt) transgenic mice to the SOD1 heterozygote or knockout mice.

229 cess alpha globin genes in beta thalassaemia heterozygotes or alpha globin gene deletions in beta tha

230 n who had the lowest-risk genotypes (DR4-DQ8 heterozygotes or homozygotes).

231 405, whereas 13 healthy siblings were either heterozygotes or lacked the mutant allele.

232 alization at 30 days to 1 year compared with heterozygotes or those homozygous for the non-P-gp-lower

233 e mosquitoes (CYP6P9a-SS) lay more eggs than heterozygote (OR = 2.04: P = 0.01) and homozygote resist

234 with Plasmodium infection in Obout than both heterozygote (OR = 2.5; P = 0.012) and homozygote suscep

235 hitecture for a simulated gene is a compound heterozygote, our method is better able to capture the s

236 .Cys282Tyr homozygotes and 2.3% for compound heterozygotes (p < 0.001).

237 .Cys282Tyr homozygotes and 3.5% for compound heterozygotes (p < 0.001); in females, it was 14.0% for

238 MR)-deficient colorectal cancer cells formed heterozygote (p53 wild-type/mutant) colonies when cultur

239 nts appeared to be shorter than that seen in heterozygote patients.

240 Furthermore, heterozygotes performed more accurately in behavioral ta

241 been devoted to the mechanisms underpinning heterozygote phenotype and its consequences for allele f

242 pe paternal allele expression attenuates the heterozygote phenotype.

243 -GWAS for an obligate outcrossing and highly heterozygote plant genus suggests that this approach may

244 Heterozygote plasma samples displayed also increases in

245 h, and the absence of any overt phenotype in heterozygotes provides important in vivo precedent for t

246 Similarly, heterozygote RDL(R)/RDL(S) were also more likely to mate

247 Heterozygotes remain seizure free for another month.

248 Hh-signaling through Smo co-mutation in Tbx5 heterozygotes rescued the limb defects, thus placing Tbx

249 Igf2r(I1565A/+p) maternal transmission (heterozygote), resulted in placental and embryonic over-

250 Reduced levels of TCF7, found in the heterozygote, resulted in a greater potential for Treg p

251 a gene dose-dependent manner when comparing heterozygote RMRP carriers with patients with CHH.

252 in autoantigen-binding repertoires between a heterozygote's two expressed HLA variants might result i

253 Heterozygotes shared similar phenotypic features includi

254 llelic interaction) at this locus, where the heterozygotes show higher activity in the cingulo-opercu

255 demonstrated that doc2a+/- fam57ba+/- double heterozygotes show hyperactivity and increased seizure s

256 Both sets of heterozygotes show the presence of both polymorphisms in

257 The dgk2-1/+ dgk4-1/+ double heterozygote showed defective pollen tube growth and see

258 e-trap allele, Specc1lcGT/DeltaC510 compound heterozygotes showed a palate elevation delay with incom

259 By contrast, PINK1 p.G411S heterozygotes showed no decrease of PINK1 protein levels

260 In contrast, hearts from homozygotes and heterozygotes showed normal morphology, myofibrillar arr

261 While cells from PINK1 p.Q456X heterozygotes showed reduced levels of PINK1 protein and

262 t MS of a rare genetic variant of P2RX7 with heterozygotes showing near absent proinflammatory 'pore'

263 We generated Zcchc8-null mice and found that heterozygotes, similar to human mutation carriers, had T

264 We found that the heterozygote SM22alpha-Cre:SCAP(flox/+):ApoE(-/-) mice f

265 nd substantial homozygosity underlying fixed heterozygote SSR genotypes, which in turn reflect a self

266 , we confirm that Sls-GFP can be used in the heterozygote state without an obvious phenotype in IFM a

267 otes or the loop-tail phenotype in Lp mutant heterozygotes, suggesting that mice with these mutant al

268 ident in primary cultures of Nmnat2 compound heterozygote superior cervical ganglion neurons.

269 arian Vizslas revealed the presence of three heterozygotes, supporting the presence of carriers in th

270 actional haematocrit reduction >25%) in G6PD heterozygotes taking the higher (7 d) primaquine dose (9

271 Two heterozygotes taking the higher (7 d) primaquine dose re

272 maquine dose (9/17 [53%]) compared with G6PD heterozygotes taking the standard high (14 d) dose (2/16

273 proximately 3.5-fold higher mutation rate in heterozygotes than in homozygotes, with mutations occurr

274 n of vitamin status based on construction of heterozygotes that combine strong and hypomorphic mutant

275 Even when expressed as a heterozygote, the Nan-EKLF protein accomplishes this by

276 In Pkd2 heterozygotes, the 50% PC2 reduction resulted in a noneq

277 Importantly, for heterozygotes, the apoE4/apoE3 isoform ratio was increas

278 In heterozygotes, the mean fractional haematocrit reduction

279 In mtrm/(+) heterozygotes, there is a low level of sister centromere

280 We intercrossed Ret and Sema3d double null heterozygotes to generate mice with the nine possible ge

281 generated Arid1b-knockout mice and examined heterozygotes to model human patients.

282 ch selection operates is a duplicate/singlet heterozygote; to the best of our knowledge, this has not

283 , cardiac disease is reduced and survival of heterozygote Tsc2(S1365A) knock-in mice subjected to the

284 antly, vestibular function remains intact in heterozygotes up to 10 months, the latest time point tes

285 protein expression in tumours from nine G84E heterozygote variant and 13 wild-type carriers.

286 S2A rs1060826 versus homozygous wild-type or heterozygotes, we estimate an adjusted odds ratio (OR) o

287 reduced in a group of clinically unaffected heterozygotes, we propose that increasing LDL receptor-m

288 he results from the patients with GD and the heterozygotes were combined, a significant deterioration

289 .271dupA (p.R91KfsX14) patients and compound heterozygotes were noted.

290 lymphatic phenotype in Tbx1-Vegfr3 compound heterozygotes were regulated independently by the two ge

291 (odds ratio 1.88, P = 0.005) compared to AG heterozygotes whereas the AA homozygotes trended towards

292 n A315T TDP-43 protein were 300% elevated in heterozygotes, whereas the endogenous mouse Tdp-43 was d

293 duced diffusion capacity was observed in all heterozygotes with a history of smoking.

294 r this mutation and 2 siblings were compound heterozygotes with a splice site mutation c.1220 + 1G>C

295 ated poor growth and larval lethality, while heterozygotes with frameshift alleles survived to adulth

296 tabolomics associations identified 61 (5.1%) heterozygotes with phenotype manifestations affecting se

297 100% of homozygotes versus 37.5% of compound heterozygotes with transferrin saturation > 50%; p = 0.0

298 coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His63Asp];[C

299 Likewise, supplementation of K153Delta heterozygotes with WT-Prph2 results in structural but no

300 PI Z-containing compound heterozygotes (ZS/ZV(R); n = 7) had lower FEV(1)/FVC (P