title: A new mutation in the elastin gene causing supravalvular aortic stenosis.
abstract: A large supravalvular aortic stenosis kindred, with a point mutation in exon 18 and a stop codon in exon 22 of the elastin gene, is described. Clinically, the disease severity appeared to increase in successive generations in this family.
authors: German Heart Center, Section of Pediatric Cardiology, Medical Faculty of the Charité, Humboldt University of Berlin.
authors: T
authors: T
authors: Boeckel
authors: A
authors: A
authors: Dierks
authors: A
authors: A
authors: Vergopoulos
authors: S
authors: S
authors: Bähring
authors: H
authors: H
authors: Knoblauch
authors: B
authors: B
authors: Müller-Myhsok
authors: H
authors: H
authors: Baron
authors: A
authors: A
authors: Aydin
authors: G
authors: G
authors: Bein
authors: F C
authors: FC
authors: Luft
authors: H
authors: H
authors: Schuster
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001024:Aortic Valve Stenosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D018388:Codon, Terminator / Q000235:genetics; D004549:Elastin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation
chemical_list: D018388:Codon, Terminator; D004549:Elastin