메뉴 건너뛰기




Volumn 83, Issue 7, 1999, Pages 1141-1143

A new mutation in the elastin gene causing supravalvular aortic stenosis

Author keywords

[No Author keywords available]

Indexed keywords

ELASTIN;

EID: 0032953522     PISSN: 00029149     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9149(99)00032-6     Document Type: Article
Times cited : (18)

References (12)
  • 1
    • 0015879008 scopus 로고
    • Supravalvular aortic stenosis
    • E.C. Martin I.F. Moseley Supravalvular aortic stenosis Br Heart J 35 1973 758 765
    • (1973) Br Heart J , vol.35 , pp. 758-765
    • Martin, E.C.1    Moseley, I.F.2
  • 3
    • 0018865534 scopus 로고
    • The genetic aspects of Williams-Beuren Syndrome and the isolated form of the supravalvular aortic stenosis: investigations of 128 families
    • T. Grimm H. Wesselhoeft The genetic aspects of Williams-Beuren Syndrome and the isolated form of the supravalvular aortic stenosis investigations of 128 families Z Kardiol 69 1980 168 172
    • (1980) Z Kardiol , vol.69 , pp. 168-172
    • Grimm, T.1    Wesselhoeft, H.2
  • 5
    • 0027403375 scopus 로고
    • The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
    • M.E. Curran D.L. Atkinson A.K. Ewart C.A. Morris M.F. Leppert M.T. Keating The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis Cell 73 1993 159 168
    • (1993) Cell , vol.73 , pp. 159-168
    • Curran, M.E.1    Atkinson, D.L.2    Ewart, A.K.3    Morris, C.A.4    Leppert, M.F.5    Keating, M.T.6
  • 9
    • 0029743388 scopus 로고    scopus 로고
    • A novel oligonucleotide ligation assay for the diagnosis of familial hypercholesterolemia
    • H. Baron S. Fong A. Aydin S. Bähring F.C. Luft H. Schuster A novel oligonucleotide ligation assay for the diagnosis of familial hypercholesterolemia Nat Biotechnol 14 1996 1279 1282
    • (1996) Nat Biotechnol , vol.14 , pp. 1279-1282
    • Baron, H.1    Fong, S.2    Aydin, A.3    Bähring, S.4    Luft, F.C.5    Schuster, H.6
  • 12
    • 0021717224 scopus 로고
    • Elastin: relation of protein and gene structure to disease
    • J. Rosenbloom Elastin relation of protein and gene structure to disease Lab Invest 51 1984 605 623
    • (1984) Lab Invest , vol.51 , pp. 605-623
    • Rosenbloom, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.