Article
[Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease].
The Korean journal of hepatology - 1 Sept 2009
Bae Sun Hwan, Kim Jong Won, Seo Jeong Kee
Abstract excerpt
BACKGROUND/AIMS: Wilson's disease (WD) is an inherited disorder of copper metabolism caused by alteration of the P-type adenosine triphosphatase (ATP) 7B gene. In this study, we analyzed the frequency of well-known mutations and constructed the first haplotypes for Koreans. In addition, we evalua...
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