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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy, Ozge; Agrawal, Pankaj B; Hidalgo, Carlos; Schmitz-Abe, Klaus; DeChene, Elizabeth T; Swanson, Lindsay C; Soemedi, Rachel; Vasli, Nasim; Iannaccone, Susan T; Shieh, Perry B; Shur, Natasha; Dennison, Jane M; Lawlor, Michael W; Laporte, Jocelyn; Markianos, Kyriacos; Fairbrother, William G; Granzier, Henk; Beggs, Alan H.
  • Ceyhan-Birsoy O; From the Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research (O.C.-B., P.B.A., K.S.-A., E.T.D., L.C.S., K.M., A.H.B.), and Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Physiology and Sarver Molecular Cardiovascular Research Program (C.H., H.G.), University of Arizona, Tucson; Center for Computational Molecular Biology and Department of Molecular and Cellular Biology and Biochemistry (R
Neurology ; 81(14): 1205-14, 2013 Oct 01.
Article en En | MEDLINE | ID: mdl-23975875
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Miopatías Estructurales Congénitas / Conectina Tipo de estudio: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2013 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Miopatías Estructurales Congénitas / Conectina Tipo de estudio: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2013 Tipo del documento: Article