Article
High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.
Journal of hepatology - 1 Nov 2001
Caca K, Ferenci P, Kühn H J, Polli C, Willgerodt H, Kunath B, Hermann W, Mössner J, Berr F
Abstract excerpt
BACKGROUND/AIMS: Wilson disease is caused by a large number of different mutations in the ATP7B gene. Wilson disease patients from a homogeneous ethnical background (Saxonia) were studied for distribution and phenotypes of ATP7B mutations. METHODS: Eighty-two patients were analyzed. The H1069Q mutation was assayed by a polymerase chain reaction-based restriction fragment length polymorphism test. Exons 8 and 15...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.