Clinical and genetic heterogeneity in Wilson disease - A review

Wilson disease (WD) is an inborn error of copper metabolism leading to its accumulation in liver, kidney and cornea. It is caused by a defective ATPase protein which is coded by ATP7B gene. It follows an autosomal recessive mode of inheritance with a prevalence of 1 in 30,000. WD shows varied clinic...

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Bibliographic Details
Main Authors: Advithi Rangaraju, Sridhar MS, Poonam Naik
Format: Article
Language:English
Published: KIMS Foundation and Research Center 2015-09-01
Series:Journal of Medical and Scientific Research
Subjects:
Online Access:http://jmsronline.com/article.aspx?ID=Clinical-and-genetic-heterogeneity-in-Wilson-disease