title: A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20.
authors.affiliation: Department of Biochemistry, University of Sydney, NSW, Australia.
authors.forename: J
authors.initials: J
authors.lastname: Dedic
authors.forename: A S
authors.initials: AS
authors.lastname: Weiss
authors.forename: J
authors.initials: J
authors.lastname: Katahira
authors.forename: B
authors.initials: B
authors.lastname: Yu
authors.forename: R J
authors.initials: RJ
authors.lastname: Trent
authors.forename: Z
authors.initials: Z
authors.lastname: Urbán
mesh_terms: D000328:Adult; D021921:Aortic Stenosis, Supravalvular / Q000235:genetics*; D003596:Cytosine; D004549:Elastin / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009203:Myocardial Infarction / Q000235:genetics; D009679:Nuclear Family; D017354:Point Mutation; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D003596:Cytosine; D004549:Elastin