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

Wilson’s disease (WD) is an autosomal recessive disorder caused by ATP7B 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 whether the founde...

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Detalles Bibliográficos
Autores principales: Yang, Guo-Min, Wang, Rou-Min, Xia, Nan, Zheng, Zi-Wei, Dong, Yi, Wu, Zhi-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996491/
https://www.ncbi.nlm.nih.gov/pubmed/33668890
http://dx.doi.org/10.3390/genes12030336

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996491/
https://www.ncbi.nlm.nih.gov/pubmed/33668890
http://dx.doi.org/10.3390/genes12030336

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