High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.
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Identification of point mutations in 41 unrelated patients affected with Menkes diseaseFunctional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?Haplotype and mutation analysis in Japanese patients with Wilson disease.Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.Wilson's disease: clinical, genetic and pharmacological findings.Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.Currently Clinical Views on Genetics of Wilson's DiseaseMutational analysis of ATP7B in Chinese Wilson disease patientsFamily screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran.Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominanceAssociation between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson's Disease with Adrenocortical Insufficiency.A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.
P2860
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P2860
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
High frequency of two mutation ...... families with Wilson disease.
@ast
High frequency of two mutation ...... families with Wilson disease.
@en
type
label
High frequency of two mutation ...... families with Wilson disease.
@ast
High frequency of two mutation ...... families with Wilson disease.
@en
prefLabel
High frequency of two mutation ...... families with Wilson disease.
@ast
High frequency of two mutation ...... families with Wilson disease.
@en
P2093
P2860
P356
P1476
High frequency of two mutation ...... families with Wilson disease.
@en
P2093
P2860
P304
P356
10.1136/JMG.33.6.521
P407
P577
1996-06-01T00:00:00Z