A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20.

Human mutation

Volumn 17, Issue 1, 2001, Pages 81-

  Dedic, J ^a   Weiss, A S ^a   Katahira, J ^a   Yu, B ^a   Trent, R J ^a   Urban Z ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; ELASTIN;

ADULT; AORTA SUPRAVALVULAR STENOSIS; ARTICLE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; HEART INFARCTION; HUMAN; MALE; MUTATION; NUCLEAR FAMILY; POINT MUTATION;

ADULT; AORTIC STENOSIS, SUPRAVALVULAR; CYTOSINE; ELASTIN; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MUTATION; MYOCARDIAL INFARCTION; NUCLEAR FAMILY; POINT MUTATION; SEQUENCE DELETION;

MLCS; MLOWN;

EID: 0035219805     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(2001)17:1<81::aid-humu30>3.0.co;2-x     Document Type: Article

References (0)