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The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Strafella, Claudia; Caputo, Valerio; Galota, Rosaria Maria; Campoli, Giulia; Bax, Cristina; Colantoni, Luca; Minozzi, Giulietta; Orsini, Chiara; Politano, Luisa; Tasca, Giorgio; Novelli, Giuseppe; Ricci, Enzo; Giardina, Emiliano; Cascella, Raffaella.
Afiliación
  • Strafella C; Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, Rome, 00142, Italy.
  • Caputo V; Department of Biomedicine and Prevention, Tor Vergata University, Rome, 00133, Italy.
  • Galota RM; Department of Biomedicine and Prevention, Tor Vergata University, Rome, 00133, Italy.
  • Campoli G; Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, Rome, 00142, Italy.
  • Bax C; Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, Rome, 00142, Italy.
  • Colantoni L; Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, Rome, 00142, Italy.
  • Minozzi G; Genomic Medicine Laboratory UILDM, Santa Lucia Foundation, Rome, 00142, Italy.
  • Orsini C; Department of Veterinary Medicine (DIMEVET), University of Milan, Milan, 20100, Italy.
  • Politano L; vCardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania Luigi Vanvitelli, Naples, 80131, Italy.
  • Tasca G; vCardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania Luigi Vanvitelli, Naples, 80131, Italy.
  • Novelli G; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy.
  • Ricci E; Department of Biomedicine and Prevention, Tor Vergata University, Rome, 00133, Italy.
  • Giardina E; Neuromed Institute IRCCS, Pozzilli, 86077, Italy.
  • Cascella R; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy.
Hum Mol Genet ; 28(23): 3912-3920, 2019 12 01.
Article en En | MEDLINE | ID: mdl-31600781
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Distrofia Muscular Facioescapulohumeral / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Distrofia Muscular Facioescapulohumeral / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia