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Identification of an unusual long deletion mutation in the dystrophin gene in a patient with muscular dystrophy and dilated cardiomyopathy

  1. TitleIdentification of an unusual long deletion mutation in the dystrophin gene in a patient with muscular dystrophy and dilated cardiomyopathy
    Author infoR. Sepp ... [et al.]
    TitleIdentifikácia neobvykle dlhej delečnej mutácie dystrofínového génu u pacienta s muskulárnou dystrofiou a dilatovanou kardiomyopatiou
    Co-authors Sepp R.
    Endreffy E.
    Hortobágy T.
    Racz P.
    Polgar N.
    Pap R.
    Saghy L.
    Palinkas A.
    Csanády Miklós
    Forster Tamás
    Corporation Alpe-Adria Cardiology Meeting 12., 2004, Cividale del Friuli, Taliansko
    Sign.C 526
    Source Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248. - Bratislava : Slovak Academic Press . - Vol. 105, no. 4 (2004), p. 182
    systematics616.8-009.1:575.113:061.3
    MeSH Subject delécia génu
    dystrofín : analýza : použitie diagnostické
    dystrofie svalové : diagnostika : farmakoterapia
    kardiomyopatia dilatačná : diagnostika : farmakoterapia
    Duchenneova svalová dystrofia : komplikácie : diagnostika
    analýza DNA, mutačná : metódy
    Form, Genre abstrakt z kongresu
    LanguageEnglish
    CountrySlovak Republic
    Document kindRozpis článkov z periodík
    DatabaseARTICLES
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