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Volumn 111, Issue 3, 2013, Pages 400-405

Desmin mutations and arrhythmogenic right ventricular cardiomyopathy

Author keywords

[No Author keywords available]

Indexed keywords

DESMIN;

EID: 84872295343     PISSN: 00029149     EISSN: 18791913     Source Type: Journal    
DOI: 10.1016/j.amjcard.2012.10.017     Document Type: Article
Times cited : (62)

References (28)
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    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
    • G. McKoy, N. Protonotarios, A. Crosby, A. Tsatsopoulou, A. Anastasakis, A. Coonar, M. Norman, C. Baboonian, S. Jeffery, and W.J. McKenna Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease) Lancet 355 2000 2119 2124
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    • McKoy, G.1    Protonotarios, N.2    Crosby, A.3    Tsatsopoulou, A.4    Anastasakis, A.5    Coonar, A.6    Norman, M.7    Baboonian, C.8    Jeffery, S.9    McKenna, W.J.10
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    • Syrris, P.1    Ward, D.2    Evans, A.3    Asimaki, A.4    Gandjbakhch, E.5    Sen-Chowdhry, S.6    McKenna, W.J.7
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    • 0018842868 scopus 로고
    • Intermediate filaments as mechanical integrators of cellular space
    • E. Lazarides Intermediate filaments as mechanical integrators of cellular space Nature 238 1980 249 256
    • (1980) Nature , vol.238 , pp. 249-256
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  • 22
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    • Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
    • M.C. Dalakas, K.Y. Park, C. Semino-Mora, H.S. Lee, K. Sivakumar, and L.G. Goldfarb Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene N Engl J Med 342 2000 770 780
    • (2000) N Engl J Med , vol.342 , pp. 770-780
    • Dalakas, M.C.1    Park, K.Y.2    Semino-Mora, C.3    Lee, H.S.4    Sivakumar, K.5    Goldfarb, L.G.6
  • 24
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    • Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a des mutation
    • C. Hedberg, A. Melberg, A. Kuhl, D. Jenne, and A. Oldfors Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation Eur J Hum Genet 20 2012 984 985
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    • Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.