Article
Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations.
Clinica chimica acta; international journal of clinical chemistry - 6 Sept 2010
Lin Chin-Wen, Er Tze-Kiong, Tsai Fu-Jen, Liu Ta-Chi, Shin Pang-Yin, Chang Jan-Gowth
Abstract excerpt
BACKGROUND: Wilson disease is an autosomal recessive inherited disorder of copper metabolism. The condition is characterized by excessive deposition of copper in many organs and tissues. The major physiologic aberration is excessive absorption of copper from the small intestine and impaired biliary copper excretion. The genetic defect is located at copper-transporting adenosine triphosphatase (ATPase) gene...
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