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Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).
Errichiello, Edoardo; Zagnoli-Vieira, Guido; Rizzi, Romana; Garavelli, Livia; Caldecott, Keith W; Zuffardi, Orsetta.
Afiliación
  • Errichiello E; Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy. edoardo.errichiello@unipv.it.
  • Zagnoli-Vieira G; Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, UK.
  • Rizzi R; Neurology Unit, Department of Neuro-Motor Diseases, Azienda USL-IRCCS Reggio Emilia, Reggio Emilia, Italy.
  • Garavelli L; Medical Genetics Unit, Department of Maternal and Child Health, Azienda USL-IRCCS Reggio Emilia, Reggio Emilia, Italy.
  • Caldecott KW; Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, UK.
  • Zuffardi O; Department of Genome Dynamics, Institute of Molecular Genetics of the ASCR, v.v.i, Prague, Czech Republic.
J Hum Genet ; 65(12): 1135-1141, 2020 Dec.
Article en En | MEDLINE | ID: mdl-32651480
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Hidrolasas Diéster Fosfóricas / Ataxias Espinocerebelosas / Proteínas de Unión al ADN / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Hidrolasas Diéster Fosfóricas / Ataxias Espinocerebelosas / Proteínas de Unión al ADN / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia