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In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.
Bacalhau, Mafalda; Pratas, João; Simões, Marta; Mendes, Cândida; Ribeiro, Carolina; Santos, Maria J; Diogo, Luísa; Macário, Maria Carmo; Grazina, Manuela.
Afiliação
  • Bacalhau M; Faculty of Medicine, University of Coimbra, PA 3000-354, Portugal; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address: mafaldarvbacalhau@gmail.com.
  • Pratas J; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address: joaompratas@yahoo.com.
  • Simões M; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address: msm.simoes@gmail.com.
  • Mendes C; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address: candida_mendes@hotmail.com.
  • Ribeiro C; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address: carolina_ribeiro86@hotmail.com.
  • Santos MJ; Faculty of Medicine, University of Coimbra, PA 3000-354, Portugal; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address: mjfcsantos@gmail.com.
  • Diogo L; Pediatric Hospital of Coimbra - CHUC EPE, Portugal. Electronic address: diogo.luisa@gmail.com.
  • Macário MC; Neurology Department, Coimbra University Hospitals - CHUC EPE, Portugal. Electronic address: carmo.macario@gmail.com.
  • Grazina M; Faculty of Medicine, University of Coimbra, PA 3000-354, Portugal; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address: mgrazina.fmuc@gmail.com.
Eur J Med Genet ; 60(3): 172-177, 2017 Mar.
Article em En | MEDLINE | ID: mdl-28027978
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Simulação por Computador / DNA Mitocondrial / Síndrome de Kearns-Sayre / Miopatias Mitocondriais / Transporte de Elétrons / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Simulação por Computador / DNA Mitocondrial / Síndrome de Kearns-Sayre / Miopatias Mitocondriais / Transporte de Elétrons / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article