Article
Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilson disease.
Annals of clinical and laboratory science - 1 Jan 2010
Park Hyung-Doo, Park Hyun-Kyung, Chung Hae-Sun, Lee Soo-Youn, Kim Jong-Won, Ki Chang-Seok
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene, yet many patients have either one mutation, or no mutation. We investigated whether the mutation detection rate is associated with any biochemical characteristics of WD. In a study of 71 patients, we used PCR-sequencing to screen for ATP7B mutations in 7 exons (exons 8, 10, 11, 14, 15, 16, and 18) covering 95% of known...
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