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

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

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

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

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

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

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

9 als were homozygotes for either haplotype or compound heterozygotes.

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

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

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

13 96 phe508del CFTR homozygous patients and 28 compound heterozygotes.

14 etic studies this improves the resolution of compound heterozygotes.

15 s revealed four homozygous mutations and two compound heterozygotes.

16 Both families contain compound heterozygotes.

17 utations; they were primarily homozygotes or compound heterozygotes.

18 60 (91%) were C282Y homozygotes, 2 (3%) were compound heterozygotes, 1 (1.5%) was a C282Y heterozygot

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

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

21 , 6 (5%) were C282Y homozygotes, 8 (6%) were compound heterozygotes, 6 (5%) were C282Y heterozygotes,

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

45 60% were homozygous for C282Y, and 13% were compound heterozygotes (C282Y/H63D).

46 Homozygote and compound heterozygote carriers of CARD15/NOD2 mutations

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

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

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

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

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

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

53 In compound heterozygotes, expression of partially function

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

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

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

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

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

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

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

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

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

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

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

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

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

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

68 0X, and the proband in the second family was compound heterozygote for deletion mutations 5083delG/27

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

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

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

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

73 59Ter, one fetus with renal microcysts was a compound heterozygote for p.Glu643Ala and p.Asn800Lys, a

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

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

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

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

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

79 Another compound heterozygote for truncating and inactivating mi

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

109 4 simplex cases of RP, we found two who were compound heterozygotes for mutations that cosegregated w

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

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

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

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

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

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

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

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

118 Homozygotes or compound heterozygotes for the R200W germline mutation i

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

135 GBA homozygotes/compound heterozygotes had lower enzymatic activity than

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

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

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

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

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

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

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

143 Moreover, compound heterozygote mice for Calcr and Amylin inactiva

144 We identified compound heterozygote mutations in the Tetratricopeptide

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

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

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

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

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

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

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

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

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

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

155 .0% for p.Cys282Tyr homozygotes and 2.3% for compound heterozygotes (p < 0.001).

156 .4% for p.Cys282Tyr homozygotes and 3.5% for compound heterozygotes (p < 0.001); in females, it was 1

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

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

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

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

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

162 Compound heterozygotes showed increased mortality of the

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

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

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

166 Compound heterozygotes (those who had both HFE C282Y and

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

190 Compound heterozygotes with a second heterozygous deleti

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

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

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

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

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

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

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

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

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