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Recent advances in understanding the molecular genetic basis of mitochondrial disease.
Thompson, Kyle; Collier, Jack J; Glasgow, Ruth I C; Robertson, Fiona M; Pyle, Angela; Blakely, Emma L; Alston, Charlotte L; Oláhová, Monika; McFarland, Robert; Taylor, Robert W.
Afiliação
  • Thompson K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Collier JJ; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Glasgow RIC; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Robertson FM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Pyle A; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Blakely EL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Alston CL; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • McFarland R; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
J Inherit Metab Dis ; 43(1): 36-50, 2020 01.
Article em En | MEDLINE | ID: mdl-31021000
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Técnicas de Diagnóstico Molecular / Genoma Mitocondrial / Sequenciamento de Nucleotídeos em Larga Escala / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Técnicas de Diagnóstico Molecular / Genoma Mitocondrial / Sequenciamento de Nucleotídeos em Larga Escala / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido