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Volumn 10, Issue 6, 1997, Pages 415-423

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

Author keywords

Fibrillin; Marfan syndrome; Mutations; Polymorphisms

Indexed keywords

EPIDERMAL GROWTH FACTOR; FIBRILLIN;

EID: 0030778814     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C     Document Type: Review
Times cited : (84)

References (6)
  • 1
    • 0029745110 scopus 로고    scopus 로고
    • Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome
    • Ades LC, Haan EA, Colley AF, Richards RI (1996) Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. J Med Genet 33:665-671.
    • (1996) J Med Genet , vol.33 , pp. 665-671
    • Ades, L.C.1    Haan, E.A.2    Colley, A.F.3    Richards, R.I.4
  • 2
    • 0028242719 scopus 로고
    • Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfansyndrome patients and suggest distinct pathogenetic mechanisms
    • Aoyama T, Francke U, Dietz HC, Furthmayr H (1994) Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfansyndrome patients and suggest distinct pathogenetic mechanisms. J Clin Invest 94:130-137.
    • (1994) J Clin Invest , vol.94 , pp. 130-137
    • Aoyama, T.1    Francke, U.2    Dietz, H.C.3    Furthmayr, H.4
  • 3
    • 0029051066 scopus 로고
    • Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders
    • Aoyama T, Francke U, Gasner C, Furthmayr H (1995) Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. Am J Med Genet 58:169-176.
    • (1995) Am J Med Genet , vol.58 , pp. 169-176
    • Aoyama, T.1    Francke, U.2    Gasner, C.3    Furthmayr, H.4
  • 6
    • 1842310479 scopus 로고    scopus 로고
    • A novel FBN1 gene mutation in an EGF-like motif in a patient with ectopia lentis
    • Booms P, Vetter U, Robinson PN (1996) A novel FBN1 gene mutation in an EGF-like motif in a patient with ectopia lentis. Eur J Pediatr 155:739.
    • (1996) Eur J Pediatr , vol.155 , pp. 739
    • Booms, P.1    Vetter, U.2    Robinson, P.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.