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A 30 kb deletion in the elastin gene is associated with familial supravalvular aortic stenosis.
Timothy M. Olson, Virginia V. Michels, Zsolt Urban, Katalin Cslszar, Angela M. Christiano, David J. Driscoll, Robert H. Feldt, Charles D. Boyd, Stephen N.
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Olson et al. (1995) studied this question.
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