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A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles.
Botta, Annalisa; Visconti, Virginia Veronica; Fontana, Luana; Bisceglia, Paola; Bengala, Mario; Massa, Roberto; Bagni, Ilaria; Cardani, Rosanna; Sangiuolo, Federica; Meola, Giovanni; Antonini, Giovanni; Petrucci, Antonio; Pegoraro, Elena; D'Apice, Maria Rosaria; Novelli, Giuseppe.
Afiliación
  • Botta A; Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
  • Visconti VV; Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
  • Fontana L; Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
  • Bisceglia P; Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
  • Bengala M; Research Laboratory, Complex Structure of Geriatrics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Massa R; Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
  • Bagni I; Neuromuscular Disease Unit, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
  • Cardani R; Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
  • Sangiuolo F; BioCor Biobank, UOC SMEL-1 of Clinical Pathology, IRCCS-Policlinico San Donato, Milan, Italy.
  • Meola G; Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
  • Antonini G; Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
  • Petrucci A; Department of Biomedical Sciences for Health, University of Milan, Milan, Italy.
  • Pegoraro E; Department of Neurorehabilitation Sciences, Casa di Cura del Policlinico, Milan, Italy.
  • D'Apice MR; Neuromuscular and Rare Disease Center, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.
  • Novelli G; Center for Neuromuscular and Neurological Rare Diseases, S. Camillo Forlanini Hospital, Rome, Italy.
Front Genet ; 12: 668094, 2021.
Article en En | MEDLINE | ID: mdl-34234810

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Front Genet Año: 2021 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Front Genet Año: 2021 Tipo del documento: Article País de afiliación: Italia