A new mutation in the elastin gene causing supravalvular aortic stenosis

Authors
Boeckel, T Dierks, A Vergopoulos, A Bahring, S Knoblauch, H Muller-Myhsok, B Baron, H Aydin, A Bein, G Luft, FC Schuster, H
Citation
T. Boeckel et al., A new mutation in the elastin gene causing supravalvular aortic stenosis, AM J CARD, 83(7), 1999, pp. 1141
Citations number
12
Categorie Soggetti
Cardiovascular & Respiratory Systems","Cardiovascular & Hematology Research
Journal title
AMERICAN JOURNAL OF CARDIOLOGY
ISSN journal
00029149 → ACNP
Volume
83
Issue
7
Year of publication
1999
Database
ISI
SICI code
0002-9149(19990401)83:7<1141:ANMITE>2.0.ZU;2-H
Abstract
A large supravalvular aortic stenosis kindred, with a point mutation in exo n 18 and a stop codon in exon 22 of the elastin gene, is described. Clinica lly, the disease severity appeared to increase in successive generations in this family.