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Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles.
Botta, Annalisa; Rossi, Giulia; Marcaurelio, Marzia; Fontana, Luana; D'Apice, Maria Rosaria; Brancati, Francesco; Massa, Roberto; G Monckton, Darren; Sangiuolo, Federica; Novelli, Giuseppe.
Afiliação
  • Botta A; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.
  • Rossi G; Department of Laboratory Medicine, Tor Vergata Hospital, Rome, Italy.
  • Marcaurelio M; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.
  • Fontana L; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.
  • D'Apice MR; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.
  • Brancati F; Department of Laboratory Medicine, Tor Vergata Hospital, Rome, Italy.
  • Massa R; Department of Laboratory Medicine, Tor Vergata Hospital, Rome, Italy.
  • G Monckton D; Department of Neurosciences, Tor Vergata University of Rome, Rome, Italy.
  • Sangiuolo F; Institute of Molecular, Cell and System Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
  • Novelli G; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.
Eur J Hum Genet ; 25(2): 257-261, 2017 02.
Article em En | MEDLINE | ID: mdl-27876818
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Linhagem / Expansão das Repetições de Trinucleotídeos / Alelos / Miotonina Proteína Quinase / Distrofia Miotônica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Linhagem / Expansão das Repetições de Trinucleotídeos / Alelos / Miotonina Proteína Quinase / Distrofia Miotônica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália