Article
Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
Journal of genetics - 1 Dec 2017
Tuan Pham Le Anh, Nguyen Trong Tue, Nga Le Hoang Bich, Tran Dat Quoc, Ho Cam Tu, Tran Thinh Huy, Ta Van Thanh, Bui The Hung, Tran Van Khanh
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The gene responsible for WD was discovered in 1993 and is located on chromosome 13 at 13q14.3. It encodes a copper-specific transporting P-type ATPase. Early diagnosis can improve treatment outcome and decrease the rate of disability or even mortality.We used Sanger sequencing to identify mutation hot spots in 55 northern Vietnamese with...
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