Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP713 gene
Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP713 gene
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与 ATP713 基因新突变相关的威尔逊病的症状前诊断
DOI：
10.1007/s00431-001-0865-9
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发表时间：
2002
影响因子：
3.6
通讯作者：
A. Matsuura
中科院分区：
文献类型：
--
作者：
K. Ohya;W. Abo;Hisamitsu Tamaki;Chieko Sugawara;T. Endo;Shosuke Nomachi;M. Fukushi;M. Kinebuchi;A. Matsuura
一个与ATP7B基因突变相关的肝豆状核变性(WND)症状前诊断的家系研究报告。第一例疑似WND患儿的临床和实验室特征；两名患儿的基因突变分析；肝活检的形态变化和铜含量分析。
Reports on a family study of a presymptomatic diagnosis of Wilson disease (WND) associated with a mutation of the ATP7B gene. Clinical and laboratory characteristics of the first child suspected with WND; Mutation analysis of the gene of the two children; Analysis of the liver biopsy for the morphological changes and copper content.