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肝豆状核变性(hepatolenticular degeneration)又名Wilson病(WD),为常染色体隐性遗传的铜代谢障碍疾病,在世界范围内的发病率约为1/30 000~1/1 000 000[1],以儿童和青少年发病为主,是常见的遗传性肝病之一。其致病基因ATP7B已被定位于13q14.3区,近年来的研究证实中国患者的突变热区
Hepatolenticular degeneration, also known as Wilson’s disease (WD), is an autosomal recessive copper metabolism disorder with a worldwide incidence of approximately 1 in 30 000 to 1 000 000 [1 ], Mainly children and adolescents, is one of the common hereditary liver disease. Its causative gene ATP7B has been located in the 13q14.3 area, recent studies have confirmed that patients with mutations in the hot area of China