Article
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Human mutation - 1 Feb 2001
Colliton R P, Bason L, Lu F M, Piccoli D A, Krantz I D, Spinner N B
Abstract excerpt
Alagille syndrome (AGS) is an autosomal dominant disorder caused by mutations in Jagged1 (JAG1), a ligand in the evolutionarily conserved Notch signaling pathway. Previous studies have demonstrated that a wide spectrum of JAG1 mutations result in AGS. These include total gene deletions, protein truncating, splicing and missense mutations which are distributed across the coding region of the gene. Here we present...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.