Article
High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.
Hepatology (Baltimore, Md.) - 1 Dec 2000
García-Villarreal L, Daniels S, Shaw S H, Cotton D, Galvin M, Geskes J, Bauer P, Sierra-Hernández A, Buckler A, Tugores A
Abstract excerpt
The molecular basis of Wilson disease (WD), an autosomal recessive disorder, is the presence of mutations in the ATP7B gene, a copper transporting ATPase. Hospital records indicated a higher prevalence of WD (1 in 2,600) in some counties in the northeastern region of the island of Gran Canaria (Canary Islands, Spain) that was around 10-fold higher than that described for European populations (1 in 30,000). The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.