Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
about
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesPhenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotypeDiverse functional properties of Wilson disease ATP7B variants.Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.Successful pregnancy outcome in a Korean patient with symptomatic Wilson's disease.Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.Genetics of Wilson's disease: a clinical perspective.Geographic distribution of ATP7B mutations in Wilson disease.Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.The genetics of Wilson disease.Mutational analysis of ATP7B in north Chinese patients with Wilson disease.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.Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.Production of Wilson Disease Model Rabbits with Homology-Directed Precision Point Mutations in the ATP7B Gene Using the CRISPR/Cas9 System.Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
P2860
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P2860
Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Identification of novel mutati ...... patients with Wilson disease.
@en
Identification of novel mutati ...... patients with Wilson disease.
@nl
type
label
Identification of novel mutati ...... patients with Wilson disease.
@en
Identification of novel mutati ...... patients with Wilson disease.
@nl
prefLabel
Identification of novel mutati ...... patients with Wilson disease.
@en
Identification of novel mutati ...... patients with Wilson disease.
@nl
P2860
P1433
P1476
Identification of novel mutati ...... patients with Wilson disease.
@en
P2093
Han-Wook Yoo
P2860
P304
P356
10.1097/00125817-200211001-00009
P407
P433
P577
2002-11-01T00:00:00Z
P5875
P6179
1041972651