Elastin mutation and cardiac disease.

Abstract excerpt

Characterization of the molecular basis of structural cardiac disease includes elucidating the pathogenesis of certain vascular disease by demonstrating mutations of the Elastin gene as the cause of familial supravalvular aortic stenosis (SVAS) and Williams' syndrome (WS). Defining the etiology of SVAS has clinical implications in terms of prenatal and presymptomatic diagnosis and possible earlier intervention...

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