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Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulàlia; Ramón, Javier; Codina-Sola, Marta; Llauradó, Arnau; Salvadó, Maria; Sánchez-Tejerina, Daniel; Sotoca, Javier; Martínez-Sáez, Elena; Martí, Ramon; García-Arumí, Elena; Juntas-Morales, Raul.
Afiliação
  • Restrepo-Vera JL; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases, Department of Neurology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Rovira-Moreno E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Ramón J; Medicine Genetics Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Codina-Sola M; Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Llauradó A; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Salvadó M; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Sánchez-Tejerina D; Medicine Genetics Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Sotoca J; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases, Department of Neurology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Martínez-Sáez E; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases, Department of Neurology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Martí R; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases, Department of Neurology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • García-Arumí E; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases, Department of Neurology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Juntas-Morales R; Department of Pathology, Hospital Vall d'Hebron, Universitat Autònoma Barcelona, 08035, Barcelona, Spain.
J Hum Genet ; 68(8): 527-532, 2023 Aug.
Article em En | MEDLINE | ID: mdl-36959467
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ribonucleotídeo Redutases / Oftalmoplegia / Oftalmoplegia Externa Progressiva Crônica Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adult / Child / Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ribonucleotídeo Redutases / Oftalmoplegia / Oftalmoplegia Externa Progressiva Crônica Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adult / Child / Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha