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...

Full description

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

Internet

https://www.mdpi.com/2073-4425/12/3/336

Similar Items