Article
Common mutations of ATP7B in Wilson disease patients from Hungary.
American journal of medical genetics - 15 Feb 2002
Firneisz Gábor, Lakatos Péter L, Szalay Ferenc, Polli Claudia, Glant Tibor T, Ferenci Peter
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The H1069Q mutation in exon 14 of ATP7B is far the most frequent in Wilson patients of European origin. Mutations in exon 8 and 15 are also common among the over 150 described mutations in the WD gene. The aim was to investigate the frequency of these common WD gene mutations in Hungarian patients. A total of 42 patients with WD from 39...
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