A new mutation in the elastin gene causing supravalvular aortic stenosis

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

The American Journal of Cardiology（1999）

引用 19|浏览18

暂无评分

摘要

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.

查看译文

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要