ライフサイエンスコーパス: homozygous mutation

1 ous for this mutation, and one patient had a homozygous mutation.

2 .17-0.91) but not with the SDF-1alpha 3' UTR homozygous mutation.

3 roband and an affected sibling with the same homozygous mutation.

4 he disease locus, in which we identified two homozygous mutations.

5 ed by mutation analyses designed to identify homozygous mutations.

6 a hypoxia-sensing disorder characterized by homozygous mutation (598C>T) of von Hippel-Lindau gene (

7 Thirty-six percent had homozygous mutations; 64% had compound heterozygous muta

8 ene, while those in the second family have a homozygous mutation 659_660delTA in the LIPH gene.

9 Most cases harbored homozygous mutations (8/10), while a compound heterozygo

10 A novel homozygous mutation, a single base change of T(1360)-->G

11 We found two homozygous mutations, a splice-site and a nonsense mutat

12 Here we show that a homozygous mutation affecting a highly conserved MFSD2A

13 We show that homozygous mutations affecting exons 1-4 of human AMN le

14 probands, 2.5 and 22-year-old, with the same homozygous mutation, allowed us to study the cross-secti

15 , 64 discrepancies were flagged as potential homozygous mutations and 82 were flagged as potential he

16 ntal disomy (UPD), have been shown to harbor homozygous mutations and are a common feature in myelody

17 prior observations of a reduced frequency of homozygous mutations and might contribute to increased l

18 rom two patients carrying different types of homozygous mutations and showed that these iPSCs are plu

19 for selection to act on heterozygous versus homozygous mutations and the shielding of a proportion o

20 x additional affected subjects revealed four homozygous mutations and two compound heterozygotes.

21 Taken together, our findings highlight VAMP1 homozygous mutations as a cause of presynaptic CMS.

22 ER acetylation, as caused by heterozygous or homozygous mutations as well as gene duplication events

23 A homozygous mutation associated with recessive inheritanc

24 Disease progression is accompanied by homozygous mutation at 1 of 2 loci (designated TSC1 or T

25 Exome sequencing identified a homozygous mutation at an essential splice site on USP18

26 Mice with a homozygous mutation at the eIF2alpha phosphorylation sit

27 uniparental disomy, we identified concurrent homozygous mutations at four distinct loci (WT1, FLT3, C

28 obtained mice bearing both heterozygous and homozygous mutations at this locus.

29 ver if clonal evolution from heterozygous to homozygous mutations by mitotic recombination provides a

30 n a consanguineous family, we identified the homozygous mutation c.1127C>A in exon 7 of RIPK4 that re

31 Analyses of these data revealed homozygous mutation c.208G>T (p.Asp70Tyr) or c.878G>C (p

32 > C (p.Ile200Thr) and one family had another homozygous mutation c.214C > T (p.Arg72Trp).

33 q13.3, i.e. two families shared an identical homozygous mutation c.599T > C (p.Ile200Thr) and one fam

34 The deleterious nature of the homozygous mutation c.697T>C (p.Ser233Pro) was demonstra

35 d by a hyperkinetic movement disorder due to homozygous mutations c.320A>G (p.Tyr107Cys) and c.346G>C

36 In another family, we identified a homozygous mutation (c.161T>C; p.Phe54Ser) in EDC3 in tw

37 Upon whole exome sequencing, we identified a homozygous mutation (c.1861C>T;p.Q621*) in the aryl hydr

38 A homozygous mutation (c.1877T > C) in STT3A causes a p.Va

39 In a fifth family, a homozygous mutation (c.740G>A [p.Arg247Gln]) altering a

40 apping and whole-exome sequencing identified homozygous mutations (c.355C>T [p.Arg119Cys] and c.751C>

41 We identified two unreported IL36RN homozygous mutations (c.41C>A/p.Ser14X and c.420_426del/

42 lies of different ethnicities, we identified homozygous mutations (c.607dup, c.424A>T, and c.1750delG

43 Candidate gene sequencing identified a homozygous mutation, c.1411-2A > G, in the SAMHD1 gene,

44 DNA sequence analysis revealed a novel homozygous mutation, c.2000C>T, leading to the amino aci

45 In this study, a novel AK2 homozygous mutation, c.622 T > C [p.Ser208Pro], was iden

46 In this work, we have identified 4 different homozygous mutations, c.665G>A (p.R222Q), c.1633_1635del

47 we sequenced the P2RY5 gene and identified a homozygous mutation (C278Y) in all affected individuals

48 D) genomic DNA from the fibroblasts showed a homozygous mutation (C773T) changing proline to leucine

49 However, homozygous mutation carriers presumably lacking function

50 phenotypes can be obscured or impractical if homozygous mutations cause early embryonic defects.

51 pectrin (SPTBN2) underlie SCA type-5 whereas homozygous mutations cause spectrin associated autosomal

52 By comparison, the TREX1 R114H homozygous mutation causes AGS and is found as a heteroz

53 Here, we describe a rare homozygous mutation (D40H) in the POLR3E gene, coding fo

54 We found that the monoallelic and homozygous mutations, DeltaE1279 and D1114G, in the RPGR

55 imate genomic mutation rates (U) and average homozygous mutation effects (s) from mutation-accumulati

56 1 and Su86.86 cell lines and a novel somatic homozygous mutation (H460R, in one of 11 pancreatic canc

57 SLC19A2 homozygous mutations have been described as a cause of t

58 h common variable immunodeficiency, however, homozygous mutations have not been described.

59 tudy shows that the functional severity of a homozygous mutation impacts the severity of clinical fea

60 rphism (A --> G) at Lys-129 that exists as a homozygous mutation in a neuroblastoma cell line and cor

61 riant of complex I deficiency due to a novel homozygous mutation in ACAD9.

62 Moreover, in 8 families with a homozygous mutation in an arthrogryposis-associated gene

63 am syndrome, and identified a patient with a homozygous mutation in an enhancer approximately 90 kb d

64 We found the same homozygous mutation in an unrelated consanguineous patie

65 Whole exome sequencing identified a homozygous mutation in AP3D1 that leads to destabilizati

66 med exome sequencing and identified a single homozygous mutation in ATP13A2 that fully segregates wit

67 We detected a homozygous mutation in BLNK, which leads to the complete

68 d in HCC/1937 breast cancer cells carrying a homozygous mutation in BRCA1 but was restored by transfe

69 Sequencing of IL36RN identified a homozygous mutation in case 1 (Pro76Leu).

70 We identified 2 brothers with a homozygous mutation in CD27 leading to absence of CD27 e

71 Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23)

72 Genetic testing revealed a common homozygous mutation in CNGB3 in 5 patients with complete

73 Mutation analysis revealed a different homozygous mutation in each family.

74 me, each affected child was found to carry a homozygous mutation in exon 17 of the POLG locus that le

75 red with defective LAT signaling caused by a homozygous mutation in exon 5, leading to a premature st

76 deficient patient keratinocytes, carrying a homozygous mutation in exon 80 (c.6527insC).

77 edigree and identified a novel nonsynonymous homozygous mutation in exon 9 of the WIPI2 (WD-repeat pr

78 sh sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated pro

79 H1 mutations in two singleton subjects and a homozygous mutation in four siblings.

80 wish pedigree led to the identification of a homozygous mutation in FOXRED1 in a child who presented

81 he sibling with hearing loss also harbored a homozygous mutation in GJB2, c.71G>A (p.Trp24*), which i

82 A homozygous mutation in growth hormone 1 (GH1) was recent

83 udies, MKs from healthy subjects harboring a homozygous mutation in IFITM3 (rs12252-C, a common singl

84 A homozygous mutation in IL21 was discovered that showed p

85 Sequencing of genomic DNA and RNA revealed a homozygous mutation in intron 4 of STAT2 that prevented

86 A patient with a novel homozygous mutation in ITK presented with autoimmune lym

87 Recently a homozygous mutation in its Sac domain was identified in

88 Mice with a homozygous mutation in Lama2 (dy2J mice) express a nonpo

89 family, affected individuals had a distinct homozygous mutation in LRBA (lipopolysaccharide responsi

90 Others have described a homozygous mutation in NBCe1 (NBCe1-A p.Ala799Val) in an

91 Genetic analysis revealed a novel homozygous mutation in NFKB1, c.2878G>A, p.Gly960Arg (G9

92 equencing of the patients revealed a private homozygous mutation in NLRP1, encoding Nucleotide-Bindin

93 gy requirements in neuronal development, the homozygous mutation in NME3 is linked to a fatal mitocho

94 Whole exomic sequencing evidenced a missense homozygous mutation in PLCZ1, c.1465A>T; p.Ile489Phe, co

95 a patient with SMA-like phenotype carrying a homozygous mutation in RBM7-a subunit of the nuclear exo

96 This study reports a homozygous mutation in REL abrogating c-Rel protein expr

97 Cardiac fibrosis in subjects with homozygous mutation in SERPINE-1 was evaluated with late

98 can be inherited and have identified a novel homozygous mutation in SLC25A22 in the affected individu

99 formation by analysing mice with a targeted homozygous mutation in Tbx2.

100 h autosomal recessive SCAN1, we identified a homozygous mutation in TDP1 (A1478G) that results in the

101 Sequencing of HSF4 showed a homozygous mutation in the 5' splice site of intron 12 (

102 Homozygous mutation in the ALS2 gene and the resulting l

103 Previously, a homozygous mutation in the CCAAT/enhancer binding protei

104 Furthermore, a previously identified homozygous mutation in the CEBPA gene coincided with a l

105 We now identify the homozygous mutation in the Chapel Hill strain of canine

106 Our studies identified a novel homozygous mutation in the ciliary protein IFT43 as the

107 DNA-PK-deficient cell line SCGR11 contains a homozygous mutation in the DNA-binding domain of p53, wh

108 skin and bowel and lung disease caused by a homozygous mutation in the EGFR gene.

109 Compared with WT mice, mice carrying a homozygous mutation in the fibrinogen gamma chain (Fibga

110 Prkdc(scid/scid) mice have a homozygous mutation in the gene encoding DNA-PK(cs) and,

111 Whole-exome sequencing revealed a homozygous mutation in the gene encoding mitochondrial r

112 ot carrying R183P had a previously described homozygous mutation in the gene encoding the E2 subunit.

113 ation (HSCT) procedures using a donor with a homozygous mutation in the HIV coreceptor CCR5 (CCR5Delt

114 The homozygous mutation in the hSEP1 mRNA in TE85 cell line

115 We identified a homozygous mutation in the human RHBDD2 gene, R85H, that

116 The recent discovery of a homozygous mutation in the immunoregulatory gene guanine

117 Exome analysis revealed a homozygous mutation in the initiation codon of the NME3

118 A homozygous mutation in the inositol monophosphatase 1 (I

119 reviously established mouse model carrying a homozygous mutation in the key enzyme of sialic acid bio

120 alysis of the factor V gene revealed a novel homozygous mutation in the last nucleotide of exon 10.

121 pound heterozygotes in one family and 1 as a homozygous mutation in the other family.

122 ions in 2 affected sisters in 1 family and a homozygous mutation in the other family.

123 Here, we report the first homozygous mutation in the PPP1R15B gene (also known as

124 Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes th

125 A homozygous mutation in the SUOX gene was identified, con

126 In this study, we identified a homozygous mutation in the tight-junction protein gene J

127 This homozygous mutation in the ultimate nucleotide of exon 1

128 We identified an N528S homozygous mutation in the VWF propeptide D2 domain, pre

129 Since homozygous mutation in TOR is lethal, it suggests that t

130 This report of a family with a homozygous mutation in TRNT1 expands the ocular phenotyp

131 In eight children, we identified a homozygous mutation in which glutamic acid at residue 47

132 in our uncharacterized DC patients revealed homozygous mutations in 6 of 132 families.

133 cular analysis of BAAT confirmed 4 different homozygous mutations in 8 patients tested.

134 Novel homozygous mutations in ADAMTS18 were identified, consis

135 the ATP6N1B locus, and identified different homozygous mutations in ATP6N1B in eight.

136 e (BBS9), supported by the identification of homozygous mutations in BBS patients.

137 s, with 33% of them containing bi-allelic or homozygous mutations in both genes.

138 Recurrent UPD11q led to identification of homozygous mutations in c-Cbl, an E3 ubiquitin ligase in

139 complete deficiency of complement C3 due to homozygous mutations in C3 gene: c.1811delT (Val604Glyfs

140 Recent publications have shown homozygous mutations in Cbl in human myeloid neoplasms.

141 patient with ASD; the recent finding of rare homozygous mutations in CNTNAP2 leading to intractable s

142 s issue, Israeli and colleagues confirm that homozygous mutations in corneodesmosin (CDSN) cause type

143 rated by breeding, a reliable method to make homozygous mutations in cultured cells has not been avai

144 d metabolic wasting (SAM syndrome) caused by homozygous mutations in DSG1.

145 to human cardiocutaneous syndromes caused by homozygous mutations in DSP.

146 We identified homozygous mutations in each of these BPS in two newly d

147 onsequence of mitotic recombination, contain homozygous mutations in genes known to be mutational tar

148 9 families carrying compound heterozygous or homozygous mutations in GTPBP3, encoding the mitochondri

149 Hairless mice carrying homozygous mutations in hairless gene manifest rudimenta

150 ected by AR isolated dystonia, we identified homozygous mutations in HPCA, a gene encoding a neuronal

151 We have identified two different homozygous mutations in human MCD (hMCD) by using RT-PCR

152 Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1 Expression of a dupli

153 ts a new pathway to account for the multiple homozygous mutations in human tumors.

154 ncoded by IL6R We describe two patients with homozygous mutations in IL6R who presented with recurren

155 Compound heterozygous or homozygous mutations in IRF8 in 3 unrelated families res

156 We identified homozygous mutations in KIF14 (NM_014875.2;c.263T>A;pLeu

157 analysis and exome sequencing, we identified homozygous mutations in KLHL24 in two consanguineous fam

158 We demonstrate the recovery of cells with homozygous mutations in known and novel MMR genes.

159 with deafness, has been found to occur with homozygous mutations in KVLQT1 and KCNE1 in JLNS familie

160 Homozygous mutations in LTBP2 have been found in humans

161 Targeted sequencing revealed homozygous mutations in LYRM7, encoding mitochondrial LY

162 mal recessive form of CID is associated with homozygous mutations in MALT1.

163 sts from the proband, we have now identified homozygous mutations in membrane type-1 metalloproteinas

164 However, homozygous mutations in MITF have not been identified in

165 d data describing the embryonic lethality of homozygous mutations in Myh9.

166 Two homozygous mutations in NEUROD1 (c.427_ 428del and c.364

167 We identified two homozygous mutations in NEUROG3, both of which rendered

168 tosis (HLH) occurs in infancy resulting from homozygous mutations in NK and CD8 T cell cytolytic path

169 with a role for satellites in microcephaly, homozygous mutations in one satellite gene, CEP90, may c

170 nd DNHD1) each of which harbored independent homozygous mutations in patients with overlapping phenot

171 Here, we report homozygous mutations in peroxidasin (PXDN) in two consan

172 shared by 2 multiplex families identified 2 homozygous mutations in PGM3 that segregated with diseas

173 Homozygous mutations in PHGDH, a gene involved in the fi

174 whole-exome sequencing (WES), we identified homozygous mutations in PKD1L1 from three affected indiv

175 Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RI

176 In the mouse, homozygous mutations in Reln result in the reeler phenot

177 Digenic homozygous mutations in RNF216 and OTUD4, which encode a

178 Two patients had homozygous mutations in RP1, p.(Glu1526*) and p.(Ser486f

179 Homozygous mutations in SLC30A10 lead to the development

180 om 13 families with compound heterozygous or homozygous mutations in SLC52A2.

181 amilies identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic

182 In conclusion, these observations show that homozygous mutations in SPARC can give rise to severe bo

183 order with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core trans

184 Homozygous mutations in the aromatic l-amino acid decarb

185 s with mal de Meleda, in which two different homozygous mutations in the ARS gene were identified.

186 ll lines, derived from AT patients harboring homozygous mutations in the ATM gene, displayed an effic

187 trate the detection of both heterozygous and homozygous mutations in the cystic fibrosis transmembran

188 nconi anemia subtype J (FA-J) resulting from homozygous mutations in the FANCJ gene.

189 In Arabidopsis, homozygous mutations in the Fe(II)- and 2-oxoglutarate-d

190 w that two forms of the disorder result from homozygous mutations in the genes CDK5RAP2 and CENPJ.

191 We report three homozygous mutations in the IL2RB gene of eight individu

192 We identified three patients with homozygous mutations in the integrin alpha(3) gene that

193 We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal

194 We describe 2 novel homozygous mutations in the KINDLIN3 gene of a new Afric

195 Homozygous mutations in the l(3)mbt gene cause brain tum

196 Affected children have homozygous mutations in the MDR3 gene (also called ABCB4

197 Similarly in mouse, homozygous mutations in the Mitf gene disrupt the develo

198 In our study of three adult patients with homozygous mutations in the PCBD1 gene, two patients wer

199 ed by TDP-43 accumulation, and patients with homozygous mutations in the PGRN gene present with neuro

200 the disease in the rhesus macaque caused by homozygous mutations in the phototransduction enzyme PDE

201 and/or direct nucleotide sequencing revealed homozygous mutations in the plectin gene (PLEC1), encodi

202 e-exome sequencing analysis identified 2 new homozygous mutations in the recently described RAB28 gen

203 in 15% to 20% of AML cases, associated with homozygous mutations in the region of loss of heterozygo

204 traits and motor delay carrying deleterious homozygous mutations in the SLC7A5 gene.

205 e disorder of spinal motor neurons caused by homozygous mutations in the survival motor neuron (SMN1)

206 SMA is caused by homozygous mutations in the survival motor neuron 1 (SMN

207 Here we identify homozygous mutations in the TDP2 gene encoding tyrosyl D

208 e identified 6 patients from 5 families with homozygous mutations in the YIPF5 gene, which is involve

209 xt generation sequencing, we have identified homozygous mutations in this gene, p.E49V and p.P18RfsX6

210 We identified 4 distinct homozygous mutations in TNFRSF9 encoding the tumor necro

211 Homozygous mutations in TREM2 cause Nasu-Hakola disease,

212 Homozygous mutations in TREM2 or DAP12 cause Nasu-Hakola

213 th FTD-like disease, we identified different homozygous mutations in TREM2 that had previously been a

214 heterozygous mutations in normal samples and homozygous mutations in tumor samples.

215 a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including

216 report that zebrafish embryos with compound homozygous mutations in two Notch ligand genes, jagged1b

217 A line of bread wheat containing homozygous mutations in two waxy homoeologs created thro

218 Here we present four unrelated patients with homozygous mutations in ZMPSTE24 and a fifth patient wit

219 Homozygous mutations in ZNF469 and PR domain-containing

220 quisition of segmental UPD and the resulting homozygous mutation is a common event associated with re

221 5% aborted seeds, indicating that the double homozygous mutation is embryo lethal.

222 The homozygous mutation is embryonic lethal by 13.5 days pos

223 we analyzed Klf6-/- mice and found that the homozygous mutation is embryonic lethal by embryonic day

224 phenotype in the heterozygous state, but the homozygous mutation is lethal.

225 ied a novel loss-of-function disease-causing homozygous mutation (K102*) in C8ORF37, a gene coding fo

226 Homozygous mutation (knockout) of the DNase II gene in m

227 We identified a homozygous mutation (M78V-V343A/M78V-V343A) and compound

228 besity in the general population, while NPC1 homozygous mutations may be frequent in the South Asian

229 We find that homozygous mutations may be isolated at three nonessenti

230 The phenotype associated with the homozygous mutation might be a consequence of complete l

231 Homozygous mutation of 14-3-3sigma led to defects in emb

232 e show that the most common cause of MCPH is homozygous mutation of ASPM, the human ortholog of the D

233 Moreover, mice with a homozygous mutation of cfh (ie, cfh (R/R) ) with or with

234 We report a homozygous mutation of CNTNAP2 in Old Order Amish childr

235 was related to a switch from heterozygous to homozygous mutation of DCK.

236 (KLK4) is critical for enamel formation, and homozygous mutation of either protease results in hypomi

237 In this study, we describe a patient with a homozygous mutation of IL6ST (encoding GP130 p.N404Y) wh

238 DNA, induced by zidovudine administration or homozygous mutation of mitochondrial polymerase gamma, i

239 We identified a homozygous mutation of SC5D (137A>C, Y46S) in this patie

240 A homozygous mutation of SERPINB6, a gene encoding an intr

241 e-onset, cholestatic liver disease caused by homozygous mutation of the ABCB4 gene, may be a promisin

242 nts are effective against adenomas that have homozygous mutation of the APC gene and also select agai

243 Here, we report the homozygous mutation of the c6orf130 gene in patients wit

244 Here we show that homozygous mutation of the gene encoding the dog adaptor

245 Here we show that homozygous mutation of the mouse homolog Tbx1 is associa

246 iomyopathy is a rare disease associated with homozygous mutation of the Natriuretic Peptide Precursor

247 tations in human renal cell carcinoma (RCC), homozygous mutation of the NF2 gene is found in approxim

248 pRTA is typically associated with homozygous mutation of the solute carrier 4 family gene

249 Despite homozygous mutation of the type II TGF-beta receptor, tw

250 A different homozygous mutation of this gene has been previously ass

251 The homozygous mutations of Eset resulted in peri-implantati

252 We identified homozygous mutations of IL1RN in nine affected children,

253 We found two distinct homozygous mutations of NDE1, c.83+1G>T (p.Ala29GlnfsX11

254 In humans, homozygous mutations of the ccr5 gene confer resistance

255 Homozygous mutations of this gene cause one form of here

256 that the probands each harbored a different homozygous mutation (one missense, one nonsense, and one

257 Spinal muscular atrophy (SMA) is caused by homozygous mutation or deletion of the SMN1 gene encodin

258 (SMA) is a neuromuscular disorder caused by homozygous mutation or deletion of the survival motor ne

259 MA) is a neurodegenerative disease caused by homozygous mutations or deletions in the survival of mot

260 tsa1/PRDX1 backgrounds leads to fixation of homozygous mutations or their loss along the lineage.

261 Using whole exome analysis, a novel double homozygous mutation p.L81R and pR212W in malonyl CoA-acy

262 We identified a homozygous mutation (p.622, encodes Ala>Thr) in RAD21 in

263 A third homozygous mutation (p.Asp502Tyr) and the p.Leu83Ser var

264 Another homozygous mutation (p.His372Gln) was detected in 1 affe

265 We describe 2 sibling HHS cases caused by a homozygous mutation (p.T567M) within the TERT T motif.

266 d 2 unrelated women aged 25 and 32 years had homozygous mutations (p.N48K).

267 al muscle sodium channel Nav 1.4, revealed a homozygous mutation predicting an arginine-to-histidine

268 We describe a severe anemia resulting from a homozygous mutation (R150Q) in the cytokine erythropoiet

269 developmentally normal patient had the same homozygous mutation (R278H) in DNA ligase IV as one of t

270 We have identified a homozygous mutation, R391H, in NUP155 that cosegregates

271 encing of LRP5 shows, in all three families, homozygous mutations R570Q, R752G, and E1367K.

272 ved a biallelic mutation rate of 44.4% and a homozygous mutation rate of 11.1%, representing a signif

273 Early retinal degeneration caused by a homozygous mutation (rd1) independent from that causing

274 d result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN exp

275 al cortex and hippocampal formation, whereas homozygous mutations result in embryonic lethality.

276 The homozygous mutation resulted in the loss of polyadenylat

277 Homozygous mutations resulting in formation of alpha1(I)

278 ort the identification of a loss-of-function homozygous mutation (rs145092287) in CTPS1 in humans tha

279 the fourth pharyngeal arch arteries, whereas homozygous mutation severely disrupts the pharyngeal arc

280 n unrelated healthy individual with the same homozygous mutation spurred more in-depth analysis of th

281 next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calc

282 A homozygous mutation (TGC --> TAC) in the second codon sh

283 We characterized zebrafish carrying a homozygous mutation that introduces a premature stop in

284 wild-type l(2)gl expression identified three homozygous mutations that dramatically alter tumorigenes

285 uguese family (previously published) had two homozygous mutations; these changes were spread througho

286 All seven affected children had homozygous mutations (Thr224Asn or Glu238Lys, depending

287 Five additional homozygous mutations (two deletions and three missense m

288 The same homozygous mutation was also identified in an additional

289 region of the progranulin (GRN) locus and a homozygous mutation was demonstrated in GRN.

290 Homozygous mutation was detected in 22.4% of the mutant

291 In each family, one patient with a homozygous mutation was found.

292 The same homozygous mutation was identified in a human patient fr

293 A total of 4 different homozygous mutations were detected in 4 patients; 2 hete

294 Similarly, homozygous mutations were found in all but one, leaving

295 Recently, homozygous mutations were found in patients with ichthyo

296 Homozygous mutations were identified in the RSPO4 gene i

297 d a small subset of predominantly clonal and homozygous mutations, which were overrepresented in the

298 The ease and efficiency of obtaining homozygous mutations will (i) facilitate genetic studies

299 splicing defect is associated with multiple homozygous mutations within a 132-bp segment of the intr

300 s can detect heterozygous mutations and most homozygous mutations without electrophoretic or chromato