Prevalent Pathogenic Variants of <em>ATP7B </em>in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect

Prevalent Pathogenic Variants of <em>ATP7B </em>in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect

Wilson’s disease (WD) is an autosomal recessive disorder caused by <i>ATP7B</i> pathogenic variants. This study aimed to show the geographical distribution and haplotype spectrum of three prevalent pathogenic variants (p.R778L, p.P992L, p.T935M) in mainland Chinese population and clarify...

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Bibliographic Details
Main Authors: Guo-Min Yang, Rou-Min Wang, Nan Xia, Zi-Wei Zheng, Yi Dong, Zhi-Ying Wu
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Genes
Subjects:
Wilson’s disease
<i>ATP7B</i>
haplotype analysis
founder effect
Chinese
Online Access:https://www.mdpi.com/2073-4425/12/3/336

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