Analysis of Wilson disease mutations in copper binding domain of ATP7B gene.

Wilson's disease (WD) is an autosomal recessive disorder, resulting from variations in ATP7B gene. Clinical heterogeneity, including neuropsychiatric and hepatic manifestations over a large range of age groups make diagnosis difficult. Most of WD patients suffer severe disabilities and even die...

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Bibliographic Details

Published in:	PLoS ONE
Main Authors:	Bushra Gul, Sabika Firasat, Raeesa Tehreem, Tayyaba Shan, Kiran Afshan
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2022-01-01
Online Access:	https://doi.org/10.1371/journal.pone.0269833