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Volumn 91, Issue 2, 2012, Pages 233-235

Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome

Author keywords

de novo mutation; FBN1 gene; Marfan syndrome; nonsense mutation

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN;

EID: 84866120150     PISSN: 00221333     EISSN: 09737731     Source Type: Journal    
DOI: 10.1007/s12041-012-0165-3     Document Type: Article
Times cited : (6)

References (4)
  • 1
    • 33744902652 scopus 로고    scopus 로고
    • Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies
    • Arbustini E., Grasso M., Ansaldi S., Malattia C., Pilotto A., Porcu E. et al. 2005 Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum. Mutat. 26, 494.
    • (2005) Hum. Mutat. , vol.26 , pp. 494
    • Arbustini, E.1    Grasso, M.2    Ansaldi, S.3    Malattia, C.4    Pilotto, A.5    Porcu, E.6
  • 3
    • 45249093677 scopus 로고    scopus 로고
    • Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
    • Faivre L., Collod-Beroud G., Child A., Callewaert B., Loeys B. L., Binquet C. et al. 2008 Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J. Med. Genet. 45, 384-390.
    • (2008) J. Med. Genet. , vol.45 , pp. 384-390
    • Faivre, L.1    Collod-Beroud, G.2    Child, A.3    Callewaert, B.4    Loeys, B.L.5    Binquet, C.6
  • 4
    • 28244441145 scopus 로고    scopus 로고
    • Marfan's syndrome
    • Judge D. P. and Dietz H. C. 2005 Marfan's syndrome. Lancet366, 1965-1976.
    • (2005) Lancet , vol.366 , pp. 1965-1976
    • Judge, D.P.1    Dietz, H.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.