ライフサイエンスコーパス: compound heterozygote

1 ns were detected in the patients' NCCT cDNA (compound heterozygote).

2 6 (0.9%) patients (3 true homozygotes and 3 compound heterozygotes).

3 mozygous for Y165C and one was a Y165C/G382D compound heterozygote.

4 estinal biopsies showed this patient to be a compound heterozygote.

5 R mutations--7 were homozygotes, and 1 was a compound heterozygote.

6 without inbreeding, or to a patient who is a compound heterozygote.

7 utations; they were primarily homozygotes or compound heterozygotes.

8 utations; 8 of the affected individuals were compound heterozygotes.

9 tients were homozygotes and the other 3 were compound heterozygotes.

10 r 4003delTC, whereas those in two others are compound heterozygotes.

11 als were homozygotes for either haplotype or compound heterozygotes.

12 the 30 were distinct, and most patients were compound heterozygotes.

13 d highest RA penetrance among shared-epitope compound heterozygotes.

14 etic studies this improves the resolution of compound heterozygotes.

15 amined for both A-T alleles were shown to be compound heterozygotes.

16 than those found in homozygotes or predicted compound heterozygotes.

17 ozygotes, C282Y heterozygotes, or C282Y/H63D compound heterozygotes.

18 96 phe508del CFTR homozygous patients and 28 compound heterozygotes.

19 ially the cardiac lymphatic abnormalities in compound heterozygotes.

20 s revealed four homozygous mutations and two compound heterozygotes.

21 Both families contain compound heterozygotes.

22 60 (91%) were C282Y homozygotes, 2 (3%) were compound heterozygotes, 1 (1.5%) was a C282Y heterozygot

23 of USHIIa were true homozygotes and 10 were compound heterozygotes; 18 heterozygotes with only one i

24 roximately 56% of all mutation carriers were compound heterozygotes, 25% were homozygotes, and both g

25 , 6 (5%) were C282Y homozygotes, 8 (6%) were compound heterozygotes, 6 (5%) were C282Y heterozygotes,

26 nly in 25 of 70 patients, of whom only 8 are compound heterozygotes, a large number of mutations have

27 In the compound heterozygote (AA/-) female, the nonclassical al

28 etic screening (heterozygote, homozygote, or compound heterozygote and mtDNA homoplasmy or heteroplas

29 , including 36 CPVT probands (24 homozygotes/compound heterozygotes and 12 heterozygotes) and 76 fami

30 We compared clinical information from 111 compound heterozygotes and 131 individuals with homozygo

31 mutations or variants (seven homozygotes and compound heterozygotes and 81 heterozygotes, 17.0% versu

32 ritish family were identified as Y165C/G382D compound heterozygotes and both missense mutations were

33 sion analyses were performed on both sets of compound heterozygotes and demonstrated downregulation o

34 outheast Asia and the Mediterranean regions, compound heterozygotes and homozygotes may have anemia t

35 f LDL-cholesterol and low HDL-cholesterol in compound heterozygotes and homozygous individuals, decre

36 ected individuals were either homozygotes or compound heterozygotes and that all unaffected individua

37 rs in heterozygotes from that in homozygotes/compound heterozygotes and there is also evidence for a

38 o variants in GJB2 or SLC26A4 (homozygote or compound heterozygote) and 10 of those infants passed ne

39 enic mice with AGT+/- mice, intercrossed the compound heterozygotes, and examined the offspring.

40 Seven patients were homozygotes, eight were compound heterozygotes, and five were heterozygotes with

41 ily that included individuals with complete (compound heterozygote) ANGPTL3 deficiency, a population

42 doubleridge homozygotes and doubleridge/null compound heterozygotes are viable.

43 SE alleles, particularly compound heterozygotes, are associated with death from a

44 SL, we generated in vitro hybrids that mimic compound heterozygote ASL.

45 In contrast, the TUBA5 cells were compound heterozygotes at the LdNT1.1 locus containing t

46 Thus, although the proposita is a compound heterozygote, because of the very low expressio

47 Hb H/Hb Constant Spring, as well as the beta compound heterozygote, beta thalassemia/HbE.

48 re end of the clinical spectrum (MDC1C) were compound heterozygote between a null allele and a missen

49 ate reduction in alpha-dystroglycan and were compound heterozygotes between a common C826A (Leu276Ile

50 ygote (c.362A>T [p.His121Leu]) and another a compound heterozygote (c.79T>C [p.Tyr27His] and c.217_22

51 review, 5% of HHC probands were found to be compound heterozygotes (C282Y/H63D), and 1.5% were homoz

52 60% were homozygous for C282Y, and 13% were compound heterozygotes (C282Y/H63D).

53 Homozygote and compound heterozygote carriers of CARD15/NOD2 mutations

54 However, compound heterozygotes carrying both the Mgat3(T37) and

55 Furthermore, compound heterozygotes carrying the Bmp7(R-G) allele tog

56 We postulated that this individual was a compound heterozygote, carrying one copy of a gene disru

57 informatics analyses revealed the bull was a compound heterozygote, carrying one naturally occurring

58 Among CASQ2 homozygotes and compound heterozygotes, clinical penetrance was 97.1% an

59 The age distribution of homozygotes and compound heterozygotes did not differ significantly from

60 ryos lacking either Foxc1 or Foxc2, and most compound heterozygotes, die pre- or perinatally with sim

61 mice homozygous for either ENU mutation (or compound heterozygotes) died during embryonic developmen

62 ndividuals leading to severe consequences in compound heterozygotes due to huntingtin deficiency.

63 Compound heterozygotes (eIF3m(flox)(/-)) or FABP4-Cre-me

64 In compound heterozygotes, expression of partially function

65 Specifically, the proband was a compound heterozygote for a 1-bp maternal deletion, 3434

66 ubstitutions and the non-Amish patient was a compound heterozygote for a frameshift mutation predicti

67 rogenesis cases demonstrated that each was a compound heterozygote for a loss-of-function mutation on

68 She was a compound heterozygote for a missense (1042GA, G52D) and

69 Specifically, the proband was shown to be a compound heterozygote for a missense mutation (L156P) an

70 neonatal adrenoleukodystrophy patient was a compound heterozygote for a missense mutation in the PEX

71 skin fragility and dental anomalies who is a compound heterozygote for a novel combination of mutatio

72 The second patient was a compound heterozygote for a paternal 1-bp insertion prod

73 analysis has shown that each individual is a compound heterozygote for a previously described beta ze

74 In each family, the proband was a compound heterozygote for a single-base-pair-substitutio

75 , G2242R, G2369S, and G2713R), a fifth was a compound heterozygote for a splice site mutation (5532 +

76 ining for plakophilin 1 in the skin and is a compound heterozygote for autosomal-recessively inherite

77 ividuals, with a third subject found to be a compound heterozygote for c.338C>T (p.Ser113Leu) and a c

78 The proband of Family 3 was a compound heterozygote for c.662C-->A and c.1609dupA (p.V

79 0X, and the proband in the second family was compound heterozygote for deletion mutations 5083delG/27

80 Our patient is the first reported compound heterozygote for E77X and the novel mutation in

81 We now report this proband to be a compound heterozygote for mutations in PC1.

82 single proband from this population who is a compound heterozygote for mutations in the RAX gene.

83 One of the probands was compound heterozygote for nonsense mutations E2005X/K446

84 59Ter, one fetus with renal microcysts was a compound heterozygote for p.Glu643Ala and p.Asn800Lys, a

85 eir 50s with complete PCSK9 deficiency (each compound heterozygote for PCSK9 p.Y142X and p.C679X) wer

86 rst cohort, we identified one girl who was a compound heterozygote for point mutations in exon 2 of t

87 One of the patients with lethal EB-PA was a compound heterozygote for premature termination-codon mu

88 The second patient is a compound heterozygote for the T914A that substitutes asp

89 contains one mutation, ie, the patient is a compound heterozygote for these mutations, because one w

90 Another compound heterozygote for truncating and inactivating mi

91 Two patients-a compound heterozygote for truncating and severely inacti

92 ime, in demonstrating that this patient is a compound heterozygote for two different missense mutatio

93 ly studies, revealed each of them as being a compound heterozygote for two different mutations.

94 The patient was a compound heterozygote for two different splice site muta

95 healthy, fertile college graduate, who was a compound heterozygote for two inactivating mutations in

96 The third patient was a compound heterozygote for two missense mutations (R142K

97 The patient was found to be a compound heterozygote for two novel recessive point muta

98 mild clinical and cellular phenotypes was a compound heterozygote for two seemingly severe mutations

99 ith type IB oculocutaneous albinism who is a compound heterozygote for TYR allele containing a mutati

100 rmal glycosaminoglycan metabolism, is thus a compound heterozygote for W402X and the new allele.

101 oci (-909g>c, L55M, Q192R) in women who were compound heterozygotes for -909g>c/L55M (n = 89), -909g>

102 Three unrelated white Americans were compound heterozygotes for 598C-->T and another VHL muta

103 nctional epidermolysis bullosa patients were compound heterozygotes for a frameshift/non-sense combin

104 proportion of the patients (n = 4) who were compound heterozygotes for a missense mutation and the 1

105 mily segregating autosomal-recessive AI were compound heterozygotes for a novel insertion mutation (g

106 Two individuals were compound heterozygotes for a previously reported point m

107 A single family whose members were compound heterozygotes for an anti-termination mutation

108 with primary hypolipidemia were found to be compound heterozygotes for ANGPTL3 loss-of-function muta

109 Both patients were found to be compound heterozygotes for C914A (A305E) and G212A (R71H

110 sis, we showed that VEC-specific conditional compound heterozygotes for Crim1 and Vegfa exhibit a phe

111 n two families affected individuals who were compound heterozygotes for Cx31 mutations.

112 ozygous prothrombin G20210A; 8.2% (5.5%) for compound heterozygotes for FVL and prothrombin G20210A;

113 Both sisters are compound heterozygotes for HSD17B4 c.650A>G (p.Y217C) (m

114 findings with extensive mineralization, were compound heterozygotes for missense mutations in the GGC

115 Three patients were homozygotes or compound heterozygotes for mutant alleles; these three c

116 We further demonstrate that mice that are compound heterozygotes for mutations in Irf6 and the gen

117 In this study, we report on 8 compound heterozygotes for mutations in the key erythroi

118 ents with cblC deficiency were homozygous or compound heterozygotes for mutations in the methylmaloni

119 disease spectrum, and permitted diagnosis of compound heterozygotes for mutations in two different he

120 Patients who were homozygous or compound heterozygotes for mutations leading to PTCs dis

121 4 simplex cases of RP, we found two who were compound heterozygotes for mutations that cosegregated w

122 All patients with SCO2 mutations were compound heterozygotes for nonsense or missense mutation

123 In addition, compound heterozygotes for one Hd allele and a Hoxa13(-)

124 ee siblings of Moroccan Jewish ancestry were compound heterozygotes for p.A33D and p.P134R, and 6 pat

125 l ventriculomegaly and renal microcysts were compound heterozygotes for p.Asn800Lys and p.Trp759Ter,

126 otes for p.R257X mutation; two siblings were compound heterozygotes for p.R257X and a novel p.C362X m

127 nal alpha thalassemia variant, and two other compound heterozygotes for the beta +33 and a beta+ thal

128 se in which the majority of the patients are compound heterozygotes for the mutations that occur in t

129 of mutY, MYH, showed that the siblings were compound heterozygotes for the nonconservative missense

130 Homozygotes or compound heterozygotes for the R200W germline mutation i

131 t, two siblings of one proband who were also compound heterozygotes for the same beta thalassemia mut

132 Both patients were found to be compound heterozygotes for the same nonsense mutation on

133 (i.e., three distinct pairs of parents) were compound heterozygotes for the same two mutations or hom

134 ion Caucasians in the United States, who are compound heterozygotes for the two mutations, may be pre

135 phenotype was observed in siblings who were compound heterozygotes for these two mutations.

136 These two participants were compound heterozygotes for two distinct nonsense mutatio

137 Afflicted members of this family were compound heterozygotes for two mutations in hMYH, Y165C

138 is showed that the affected individuals were compound heterozygotes for two mutations.

139 ary traits in heterozygotes, homozygotes and compound heterozygotes for variants at this locus from t

140 the frataxin gene into lymphoblasts of FRDA compound heterozygotes (FRDA-CH) with deficient frataxin

141 aining how it functions to protect V30MT119M compound heterozygotes from disease.

142 ntitative assay for SMNT, to distinguish SMA compound heterozygotes from non-5q SMA-like cases (pheno

143 or keratosis pilaris, whereas homozygotes or compound heterozygotes generally have more marked ichthy

144 ive to CASQ2 heterozygotes, CASQ2 homozygote/compound heterozygote genotype status in probands was as

145 nfirmed the effects of PI Z heterozygote and compound heterozygote genotypes.

146 ) animals, and similar deficits were seen in compound heterozygotes (Grm6(nob4/nob3)), indicating tha

147 groups: (1) homozygous expansions, and three compound heterozygote groups; (2) null (no frataxin prod

148 Of probands' sibs, all homozygotes and compound heterozygotes had deafness.

149 GBA homozygotes/compound heterozygotes had lower enzymatic activity than

150 r, an antigen recognized by NKT cells, these compound heterozygotes had reduced responses compared wi

151 The null group of compound heterozygotes had significantly earlier age of

152 He was found to be a compound heterozygote harboring 2 previously undescribed

153 Here, we show that most compound heterozygotes have hypoplastic kidneys and a si

154 established that most Foxc1(lacZ )Foxc2(tm1) compound heterozygotes have the same spectrum of cardiov

155 n duration (>14 years): 4 homozygotes and 17 compound heterozygotes (hereafter referred to as carrier

156 and 3 novel pathogenic MTHFR mutations, 2 as compound heterozygotes in one family and 1 as a homozygo

157 09L mutation did not have a gross phenotype, compound heterozygote knockout (KO) and KI mP215L mice w

158 Compound heterozygote mice already have reduced numbers

159 Moreover, compound heterozygote mice for Calcr and Amylin inactiva

160 rmal into old age, we now report that Nmnat2 compound heterozygote mice present with early and age-de

161 We identified compound heterozygote mutations in the Tetratricopeptide

162 we identified an FH patient presenting novel compound heterozygote mutations R410S and G592E of the L

163 otype failed to detect further homozygote or compound heterozygote mutations.

164 Compound heterozygotes (n=4) exhibited the lowest HDL-C

165 relation, individuals who were homozygous or compound heterozygotes of mutations in ABHD12 underwent

166 re both physically and functionally coupled; compound heterozygotes of Sle1 and B6.RIIB(-/-) develop

167 loss-of-function alleles of dysb, Blos1, or compound heterozygotes of these alleles impaired neurotr

168 These include three compound heterozygotes (one Japanese and two Caucasian).

169 ubjects in the nonconsanguineous family were compound heterozygotes: one allele had c.2669G-->A mutat

170 ses and all available affected siblings were compound heterozygotes or homozygotes.

171 ausal architecture for a simulated gene is a compound heterozygote, our method is better able to capt

172 .0% for p.Cys282Tyr homozygotes and 2.3% for compound heterozygotes (p < 0.001).

173 .4% for p.Cys282Tyr homozygotes and 3.5% for compound heterozygotes (p < 0.001); in females, it was 1

174 any if not most patients studied to date are compound heterozygotes rather than true molecular homozy

175 esponsible for loss of function of PEX7 in a compound heterozygote RCDP patient.

176 quencing of SCO2 showed that the patient had compound heterozygote SCO2 mutations: the previously des

177 m the three UK Caucasian cases that were all compound heterozygotes (second allele mutations: L302X,

178 wo homozygotes (Ser316/Ser316) and all seven compound heterozygotes (Ser316/Gly306) failed to bind to

179 ith a gene-trap allele, Specc1lcGT/DeltaC510 compound heterozygotes showed a palate elevation delay w

180 Compound heterozygotes showed increased mortality of the

181 e also evident in primary cultures of Nmnat2 compound heterozygote superior cervical ganglion neurons

182 The compound heterozygote Tbc1d20 (ZFN/bs) mice, generated f

183 junction of exon 6 were also identified in a compound heterozygote that was morbidly obese and diabet

184 We also generated jck/Nek8 compound heterozygotes; these mutants developed less sev

185 Compound heterozygotes (those who had both HFE C282Y and

186 The patients are compound heterozygotes: two different mutations result i

187 ched for other telSMN mutations among 23 SMA compound heterozygotes, using heteroduplex analysis.

188 In compound heterozygotes (W/W(V) and Sl/Sl(d) animals), wh

189 Expression of mutant HSD17B4 protein in a compound heterozygote was severely reduced.

190 ported in an individual with Peters anomaly (compound heterozygote) was also observed in two individu

191 e heterozygous for the mAgt deletion and the compound heterozygotes were identified and intercrossed.

192 ozygous c.271dupA (p.R91KfsX14) patients and compound heterozygotes were noted.

193 No homozygotes or compound heterozygotes were observed for any missense mu

194 e cardiac lymphatic phenotype in Tbx1-Vegfr3 compound heterozygotes were regulated independently by t

195 known to be consanguineous were found to be compound heterozygotes when mutations could be identifie

196 All patients were compound heterozygotes, whereas their parents and an una

197 ular septation defects similar to Gata4;Tbx5 compound heterozygotes while Gata4(EndoDel/wt);Tbx5(+/-)

198 otor performances, comparing homozygotes and compound heterozygotes who carry 2 PARKIN mutations with

199 examined but exhibits a phenotype only in a compound heterozygote with a nonfunctional allele.

200 utation (IVS5+5G-->A) occurred together in a compound heterozygote with a transient hyperekplexia phe

201 The female proband of Family 1 was a compound heterozygote with an ITGB6 transition mutation

202 The patient is a compound heterozygote with novel mutations in both allel

203 We discovered that one sibling was a compound heterozygote with one PI Z allele and a second

204 severe cellular and clinical phenotype was a compound heterozygote with POLG1 mutations in the polyme

205 who appeared normal at the GT position was a compound heterozygote with the G125 --> A transition on

206 The third case was a compound heterozygote with two allelic mutations, a miss

207 We determined that the patient is a compound heterozygote with two mutations in alpha spectr

208 tions were identified in a patient who was a compound heterozygote with type 1 leukocyte adhesion def

209 In contrast, compound heterozygotes with a second deletion in a Vo su

210 Compound heterozygotes with a second heterozygous deleti

211 ygotes for this mutation and 2 siblings were compound heterozygotes with a splice site mutation c.122

212 etermined, was present in five probands, all compound heterozygotes with L292ter.

213 atients, 8 were M390R homozygotes and 2 were compound heterozygotes with one allele also M390R.

214 e die as embryos, their phenotypes as viable compound heterozygotes with qkv differ.

215 No C282Y homozygotes or C282Y/H63D compound heterozygotes with serum ferritin levels less t

216 a more severe clinical phenotype, as seen in compound heterozygotes with some more frequent ABCA4 mut

217 levels (100% of homozygotes versus 37.5% of compound heterozygotes with transferrin saturation > 50%

218 e variant coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His

219 enetically proven HoFH (true homozygotes and compound heterozygotes) with LDL-C >130 mg/dL, despite o

220 The proband in the other family was a compound heterozygote, with one allele containing the 29

221 Eleven other children were compound heterozygotes, with this mutation in one allele

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