Article
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
Journal of inherited metabolic disease - 1 Dec 2010
Weiss Karl Heinz, Runz Heiko, Noe Barbara, Gotthardt Daniel Nils, Merle Uta, Ferenci Peter, Stremmel Wolfgang, Füllekrug Joachim
Abstract excerpt
Wilson disease (WD) is an autosomal-recessive copper overload disorder caused by mutations in the copper-transporting adenosine triphosphatase (ATPase) ATP7B. It presents with a highly variable clinical phenotype ranging from asymptomatic to fulminant hepatic failure or progressive neurological i...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
