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A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Gotta, Fabio; Lamp, Merit; Geroldi, Alessandro; Trevisan, Lucia; Origone, Paola; Fugazza, Giuseppina; Fabbri, Sabrina; Nesti, Claudia; Rubegni, Anna; Morani, Federica; Santorelli, Filippo Maria; Bellone, Emilia; Mandich, Paola.
Afiliación
  • Gotta F; Clinical Genetics Unit, Ospedale Policlinico IRCCS San Martino, Genoa, Italy.
  • Lamp M; Clinical Genetics Unit, Ospedale Policlinico IRCCS San Martino, Genoa, Italy.
  • Geroldi A; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, University of Genoa, Genoa, Italy.
  • Trevisan L; Clinical Genetics Unit, Ospedale Policlinico IRCCS San Martino, Genoa, Italy.
  • Origone P; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, University of Genoa, Genoa, Italy.
  • Fugazza G; Clinical Genetics Unit, Ospedale Policlinico IRCCS San Martino, Genoa, Italy.
  • Fabbri S; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, University of Genoa, Genoa, Italy.
  • Nesti C; Hematology Clinic, Ospedale Policlinico IRCCS San Martino, Genoa, Italy.
  • Rubegni A; Neurology, Ospedale Policlinico IRCCS San Martino, Genoa, Italy.
  • Morani F; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Santorelli FM; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Bellone E; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Mandich P; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
Ann Hum Genet ; 84(5): 417-422, 2020 09.
Article en En | MEDLINE | ID: mdl-32281099
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: ADN Helicasas / Disgenesia Gonadal 46 XX / Proteínas Mitocondriales / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies Idioma: En Revista: Ann Hum Genet Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: ADN Helicasas / Disgenesia Gonadal 46 XX / Proteínas Mitocondriales / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies Idioma: En Revista: Ann Hum Genet Año: 2020 Tipo del documento: Article