Article
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
Human mutation - 1 Jan 1999
Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, De Virgiliis S, Nurchi A M, Deplano A, Moi P, Pirastu M, Cao A
Abstract excerpt
Wilson disease (WD) in the Sardinian population has an approximate incidence of 1:7,000 live births. Mutation analysis of the WD gene in this population reported in our previous articles led us to the characterization of two common mutations and a group of 13 rare mutations accounting for the molecular defect of 8.5, 7.9, and 15.1% of the WD chromosomes. However, molecular analysis of the WD chromosomes...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.