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Volumn 45, Issue 2, 2000, Pages 115-118

Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome

Author keywords

FBN1; Fibrillin 1; Gene; Japanese; Marfan syndrome; Mutation

Indexed keywords

DNA; FIBRILLIN; NUCLEOTIDE;

EID: 0034103153     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050027     Document Type: Article
Times cited : (8)

References (12)
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    • (1994) J Clin Invest , vol.94 , pp. 130-137
    • Aoyama, T.1    Francke, U.2    Dietz, H.C.3    Furthmayr, H.4
  • 4
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    • Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains
    • Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA (1992) Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Hum Mut 1:366-374
    • (1992) Hum Mut , vol.1 , pp. 366-374
    • Dietz, H.C.1    Saraiva, J.M.2    Pyeritz, R.E.3    Cutting, G.R.4    Francomano, C.A.5
  • 5
    • 0027261517 scopus 로고
    • Four novel FBN1 mutations: Singificance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
    • Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyreritz RE, Francomano CA (1993) Four novel FBN1 mutations: singificance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 17:468-475
    • (1993) Genomics , vol.17 , pp. 468-475
    • Dietz, H.C.1    McIntosh, I.2    Sakai, L.Y.3    Corson, G.M.4    Chalberg, S.C.5    Pyreritz, R.E.6    Francomano, C.A.7
  • 7
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    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 9
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    • The Marfan syndrome: Diagnosis and management
    • Pyeritz RE, McKusick VA (1979) The Marfan syndrome: diagnosis and management. N Engl J Med 300:772-777
    • (1979) N Engl J Med , vol.300 , pp. 772-777
    • Pyeritz, R.E.1    McKusick, V.A.2
  • 10
    • 0023002893 scopus 로고
    • Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
    • Sakai LY, Keene DR, Engvall E (1986) Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 103:2499-2509
    • (1986) J Cell Biol , vol.103 , pp. 2499-2509
    • Sakai, L.Y.1    Keene, D.R.2    Engvall, E.3
  • 12
    • 0031058095 scopus 로고    scopus 로고
    • Human orosomucoid polymorphism: Molecular basis of the three common ORM1 alleles, ORM1*F1, ORM1*F2, and PRM1*S
    • Yuasa I, Umetsu K, Vogt U, Nakamura H, Nanba E, Tamaki N, Irizawa Y (1997) Human orosomucoid polymorphism: molecular basis of the three common ORM1 alleles, ORM1*F1, ORM1*F2, and PRM1*S. Hum Genet 99:393-398
    • (1997) Hum Genet , vol.99 , pp. 393-398
    • Yuasa, I.1    Umetsu, K.2    Vogt, U.3    Nakamura, H.4    Nanba, E.5    Tamaki, N.6    Irizawa, Y.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.