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Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.
Agolini, E; Dentici, M L; Bellacchio, E; Alesi, V; Radio, F C; Torella, A; Musacchia, F; Tartaglia, M; Dallapiccola, B; Nigro, V; Digilio, M C; Novelli, A.
Afiliación
  • Agolini E; Laboratory of Medical Genetics, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Dentici ML; Medical Genetics Unit, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Bellacchio E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Alesi V; Laboratory of Medical Genetics, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Torella A; Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, Naples, Italy.
  • Musacchia F; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
  • Tartaglia M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
  • Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Nigro V; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Digilio MC; Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, Naples, Italy.
  • Novelli A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Clin Genet ; 93(3): 675-681, 2018 03.
Article en En | MEDLINE | ID: mdl-28902392
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteína-Arginina N-Metiltransferasas / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteína-Arginina N-Metiltransferasas / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Italia