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A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: A mutation cluster within exon 20
Author(s) -
Dedic J.,
Weiss A.S.,
Katahira J.,
Yu B.,
Trent R.J.,
Urbán Z.
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(2001)17:1<81::aid-humu30>3.0.co;2-x
Subject(s) - biochemistry , biology , genetics , bioinformatics