Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis

International Journal of Molecular Medicine

Volumn 18, Issue 2, 2006, Pages 329-332

  Park, Seonmin ^a   Seo, Eul Ju ^a   Yoo, Han Wook ^a   Kim, Youngho ^b  

^a University of Ulsan College of Medicine   (South Korea)

^b Wonkwang University   (South Korea)

Author keywords

Congenital defects; Elastin; Extracellular matrix; Supravalvular aortic stenosis

Indexed keywords

ELASTIN;

AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CELL CULTURE; CYTOLOGY; FIBROBLAST; GENETIC PREDISPOSITION; GENETICS; HUMAN; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY;

AORTIC STENOSIS, SUPRAVALVULAR; BASE SEQUENCE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; ELASTIN; FIBROBLASTS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 39049187394     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.18.2.329     Document Type: Article

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