Article
Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.
Journal of clinical laboratory analysis - 1 Nov 2022
Jia Siyu, Li Xiaojin, Zhang Wei, Zhang Bei, Wu Zhen, Duan Weijia, Ou Xiaojuan, Zhou Donghu, Huang Jian
Abstract excerpt
BACKGROUND AND OBJECTIVE: Wilson disease (WD) is an autosomal recessive copper metabolic disorder caused by mutations in ATP7B. Sanger sequencing is currently used for ATP7B variant identification. However, the ATP7B gene contains 21 exons, which makes sequencing of the entire gene both complex and time-consuming. Therefore, a simpler assay is urgently needed. METHODS: We performed a laboratory and clinical...
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