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1. A new mutation in the elastin gene causing supravalvular aortic stenosis.

Author

Boeckel, Thomas, Dierks, Astrid, Boeckel, T, Dierks, A, Vergopoulos, A, Bähring, S, Knoblauch, H, Müller-Myhsok, B, Baron, H, Aydin, A, Bein, G, Luft, F C, and Schuster, H

Subjects
*AORTIC stenosis, *GENETIC mutation, *GENEALOGY, *GENETICS, *COMPARATIVE studies, *GENES, *GENETIC techniques, *RESEARCH methodology, *MEDICAL cooperation, *PROTEINS, *RESEARCH, *EVALUATION research, *HAPLOTYPES, *GENOTYPES
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. [ABSTRACT FROM AUTHOR]

Published
1999
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