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Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.
Cascella, Raffaella; Strafella, Claudia; Caputo, Valerio; Galota, Rosaria Maria; Errichiello, Valeria; Scutifero, Marianna; Petillo, Roberta; Marella, Gian Luca; Arcangeli, Mauro; Colantoni, Luca; Zampatti, Stefania; Ricci, Enzo; Deidda, Giancarlo; Politano, Luisa; Giardina, Emiliano.
Afiliación
  • Cascella R; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.
  • Strafella C; Department of Chemical-Toxicological and Pharmacological Evaluation of Drugs, Catholic University Our Lady of Good Counsel, Tirana, Albania.
  • Caputo V; Department of Biomedicine and Prevention Tor Vergata University, Rome, Italy.
  • Galota RM; Emotest Laboratory, Pozzuoli, Italy.
  • Errichiello V; Department of Biomedicine and Prevention Tor Vergata University, Rome, Italy.
  • Scutifero M; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.
  • Petillo R; Department of Biomedicine and Prevention Tor Vergata University, Rome, Italy.
  • Marella GL; Department of Experimental Medicine, Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy.
  • Arcangeli M; Department of Experimental Medicine, Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy.
  • Colantoni L; Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Rome, Italy.
  • Zampatti S; Department of Biomedicine and Prevention Tor Vergata University, Rome, Italy.
  • Ricci E; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.
  • Deidda G; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.
  • Politano L; Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.
  • Giardina E; Institute of Cell Biology and Neurobiology, National Research Council of Italy, Monterotondo, Rome, Italy.
Front Neurol ; 9: 1027, 2018.
Article en En | MEDLINE | ID: mdl-30546343
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Neurol Año: 2018 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Neurol Año: 2018 Tipo del documento: Article País de afiliación: Italia