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  • Title: A new mutation in the elastin gene causing supravalvular aortic stenosis.
    Author: Boeckel T, Dierks A, Vergopoulos A, Bähring S, Knoblauch H, Müller-Myhsok B, Baron H, Aydin A, Bein G, Luft FC, Schuster H.
    Journal: Am J Cardiol; 1999 Apr 01; 83(7):1141-3, A9-10. PubMed ID: 10190538.
    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.
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