Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis

Human Molecular Genetics

Volumn 6, Issue 7, 1997, Pages 1021-1028

  Li, Dean Y ^a,c,d   Toland, Amanda E ^b,c   Boak, Beth B ^c,d   Atkinson, Donald L ^b,c,d   Ensing, Gregory J ^e   Morris, Colleen A ^f   Keating, Mark T ^a,b,c,d  

^a UNIVERSITY OF UTAH   (United States)

^b Department of Human Genetics ^*  (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^e INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF NEVADA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ELASTIN;

AORTA SUPRAVALVULAR STENOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; FEMALE; GENE DELETION; GENE REARRANGEMENT; HUMAN; MALE; NONSENSE MUTATION; PERIPHERAL OCCLUSIVE ARTERY DISEASE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

AORTIC VALVE STENOSIS; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ELASTIN; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING;

EID: 0030804005     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.7.1021     Document Type: Article

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