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De novo mtDNA point mutations are common and have a low recurrence risk.
Sallevelt, Suzanne C E H; de Die-Smulders, Christine E M; Hendrickx, Alexandra T M; Hellebrekers, Debby M E I; de Coo, Irenaeus F M; Alston, Charlotte L; Knowles, Charlotte; Taylor, Robert W; McFarland, Robert; Smeets, Hubert J M.
Afiliação
  • Sallevelt SC; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • de Die-Smulders CE; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • Hendrickx AT; Research School for Developmental Biology (GROW), Maastricht University, Maastricht, The Netherlands.
  • Hellebrekers DM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • de Coo IF; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
  • Alston CL; Department of Neurology, Erasmus MC-Sophia Children's Hospital Rotterdam, Rotterdam, The Netherlands.
  • Knowles C; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
  • McFarland R; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
  • Smeets HJ; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
J Med Genet ; 54(2): 73-83, 2017 02.
Article em En | MEDLINE | ID: mdl-27450679
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / DNA Mitocondrial / Herança Materna / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Etiology_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male / Pregnancy Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / DNA Mitocondrial / Herança Materna / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Etiology_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male / Pregnancy Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido