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