Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
about
Wilson's Disease in China.Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review.Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.Epidemiology, diagnosis, and treatment of Wilson's disease.Genotype and clinical course in 2 Chinese Han siblings with Wilson disease presenting with isolated disabling premature osteoarthritis: A case report.ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson's Disease with Adrenocortical Insufficiency.Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
P2860
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P2860
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Spectrum and Classification of ...... ease Guides Genetic Diagnosis.
@ast
Spectrum and Classification of ...... ease Guides Genetic Diagnosis.
@en
type
label
Spectrum and Classification of ...... ease Guides Genetic Diagnosis.
@ast
Spectrum and Classification of ...... ease Guides Genetic Diagnosis.
@en
prefLabel
Spectrum and Classification of ...... ease Guides Genetic Diagnosis.
@ast
Spectrum and Classification of ...... ease Guides Genetic Diagnosis.
@en
P2093
P2860
P356
P1433
P1476
Spectrum and Classification of ...... ease Guides Genetic Diagnosis.
@en
P2093
Gui-Xian Zhao
Jian-Feng Xu
Wan-Jin Chen
Zhi-Ying Wu
P2860
P304
P356
10.7150/THNO.14596
P577
2016-03-03T00:00:00Z