Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L.

Abstract excerpt

Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism caused by a large number of different mutations in the ATP7B gene. R778L mutation is mostly observed in Chinese, Japanese and Korean patients, whereas the H1069Q point mutation in the ATP7B gene is the most frequent mutation in European patients with WD. In our previous study we did not find a significant correlation between genotype...

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