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Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions.
Carreño-Gago, Lidia; Blázquez-Bermejo, Cora; Díaz-Manera, Jordi; Cámara, Yolanda; Gallardo, Eduard; Martí, Ramon; Torres-Torronteras, Javier; García-Arumí, Elena.
Affiliation
  • Carreño-Gago L; Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Blázquez-Bermejo C; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
  • Díaz-Manera J; Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Cámara Y; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
  • Gallardo E; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
  • Martí R; Servei de Neurologia, Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Torres-Torronteras J; Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
  • García-Arumí E; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
Front Genet ; 10: 576, 2019.
Article in En | MEDLINE | ID: mdl-31258551
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Risk_factors_studies Language: En Journal: Front Genet Year: 2019 Document type: Article Affiliation country: Spain
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Risk_factors_studies Language: En Journal: Front Genet Year: 2019 Document type: Article Affiliation country: Spain