Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series.

Jiuxiang WangLulu TangAnqi XuShijie ZhangHailin JiangPei PeiHongmei LiTingting LvYue YangNannan QianKeegan NaiduWenming Yang

Published in: Medicine (2021)

This study enriches the library of the ATP7B mutations that lead to WD and can be used as a basis for genetic counseling, for WD prevention and clinical and prenatal diagnosis. Those SNPs that are believed to be harmless to ATP7B protein may be involved in the pathogenesis of WD.

Keyphrases

genome wide
copy number
young adults
dna methylation
gene expression
smoking cessation
protein protein
small molecule
hiv infected
binding protein
human immunodeficiency virus