A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20.
Dedic
J
J
Department of Biochemistry, University of Sydney, NSW, Australia.
Weiss
A S
AS
Katahira
J
J
Yu
B
B
Trent
R J
RJ
Urbán
Z
Z
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*
D003596:Cytosine; D004549:Elastin