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Volumn 35, Issue 3, 1998, Pages 253-254

Identification of a new missense mutation in MyBP-C associated with hypertrophie cardiomyopathy

Author keywords

Hypertrophie cardiomyopathy; Missense mutation; Myosin binding protein C

Indexed keywords

CARRIER PROTEIN; MYOSIN; MYOSIN BINDING PROTEIN C; MYOSIN-BINDING PROTEIN C;

EID: 0032011430     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (25)

References (11)
  • 1
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    • A-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
    • Thierfelder L, Watkins H, MacRae C, et a!. a-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-12.
    • (1994) Cell , vol.77 , pp. 701-712
    • Thierfelder, L.1    Watkins, H.2    MacRae, C.3
  • 2
    • 0029911747 scopus 로고    scopus 로고
    • Sudden death from cardiac causes in children and young adults
    • Liberthson RR. Sudden death from cardiac causes in children and young adults. N EnglJMed 1996;334:103944.
    • (1996) N EnglJMed , vol.334 , pp. 103944
    • Liberthson, R.R.1
  • 3
    • 0030046902 scopus 로고    scopus 로고
    • Contractile protein mutations and heart disease
    • Vikstrom KL, Leinwand LA. Contractile protein mutations and heart disease. Curr Opin CeUBiol 1996;8:97-105.
    • (1996) Curr Opin CeUBiol , vol.8 , pp. 97-105
    • Vikstrom, K.L.1    Leinwand, L.A.2
  • 4
    • 15844400653 scopus 로고    scopus 로고
    • Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
    • Poetter K, Jiang H, Hassanzaadeh S, et al. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 1996;13:63-9.
    • (1996) Nat Genet , vol.13 , pp. 63-69
    • Poetter, K.1    Jiang, H.2    Hassanzaadeh, S.3
  • 5
    • 0028886136 scopus 로고
    • Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophie cardiomyopathy
    • Bonne G, Carrier L, Bercovici J, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophie cardiomyopathy. Nat Genet 1995;11:438-40.
    • (1995) Nat Genet , vol.11 , pp. 438-440
    • Bonne, G.1    Carrier, L.2    Bercovici, J.3
  • 6
    • 0028844204 scopus 로고
    • Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophie cardiomyopathy
    • Watkins H, Conner D, Thierfelder J, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophie cardiomyopathy. Nat Genet 1995;ll:434-37.
    • (1995) Nat Genet , pp. 434-437
    • Watkins, H.1    Conner, D.2    Thierfelder, J.3
  • 7
    • 0027379768 scopus 로고
    • Identification of a new missénse mutation at Arg403, a CpG hotspot, in exon 13 of the -myosin heavy chain gene in hypertrophie cardiomyopathy
    • Moolman JC, Brink PA, Corfield VA. Identification of a new missénse mutation at Arg403, a CpG hotspot, in exon 13 of the -myosin heavy chain gene in hypertrophie cardiomyopathy. Hum Mol Genet 1993;2:1731-2.
    • (1993) Hum Mol Genet , vol.2 , pp. 1731-1732
    • Moolman, J.C.1    Brink, P.A.2    Corfield, V.A.3
  • 8
    • 0029014579 scopus 로고
    • Clinical and prognostic evaluation of familial hypertrophie cardiomyopathy in two South African families with different -myosin heavy chain gene mutations
    • Posen BM, Moolman JC, Corfield VA, Brink, PA. Clinical and prognostic evaluation of familial hypertrophie cardiomyopathy in two South African families with different -myosin heavy chain gene mutations. Br Heart J 1995;74: 40-6.
    • (1995) Br Heart J , vol.74 , pp. 40-46
    • Posen, B.M.1    Moolman, J.C.2    Corfield, V.A.3    Brink, P.A.4
  • 10
    • 0027515217 scopus 로고
    • The major myosin-binding domain of skeletal muscle MyBP-C (C protein) resides in the COOHterminal, immunologlobulin C2 motif
    • Okagi T, Weber FE, Fischman DA, Vaughan KT, Mikawa T, Reinach FC. The major myosin-binding domain of skeletal muscle MyBP-C (C protein) resides in the COOHterminal, immunologlobulin C2 motif. J Cell Biol 1993; 123:619-26.
    • (1993) J Cell Biol , vol.123 , pp. 619-626
    • Okagi, T.1    Weber, F.E.2    Fischman, D.A.3    Vaughan, K.T.4    Mikawa, T.5    Reinach, F.C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.