Article
The cardiovascular manifestations of Alagille syndrome and JAGI mutations.
Methods in molecular medicine - 1 Jan 2006
Goldmuntz Elizabeth, Moore Elizabeth, Spinner Nancy B
Abstract excerpt
Alagille syndrome is an autosomal-dominant disorder characterized by hepatic, cardiac, ocular, skeletal, and facial abnormalities. The disease gene, Jaggedl (JAG]), was identified by molecular analyses of chromosomal alterations involving chromosome 20p. Total gene deletions (3-7%) and intragenic mutations (70%) of JAG] have been identified in Alagille patients. Identifying JAG] mutations is challenging, given...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.