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Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.
Griffin, Helen R; Pyle, Angela; Blakely, Emma L; Alston, Charlotte L; Duff, Jennifer; Hudson, Gavin; Horvath, Rita; Wilson, Ian J; Santibanez-Koref, Mauro; Taylor, Robert W; Chinnery, Patrick F.
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  • Griffin HR; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.
  • Pyle A; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.
  • Blakely EL; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle-upon-Tyne, UK.
  • Alston CL; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle-upon-Tyne, UK.
  • Duff J; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.
  • Hudson G; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.
  • Horvath R; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.
  • Wilson IJ; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.
  • Santibanez-Koref M; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.
  • Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle-upon-Tyne, UK.
  • Chinnery PF; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.
Genet Med ; 16(12): 962-71, 2014 Dec.
Article en En | MEDLINE | ID: mdl-24901348
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: ADN Mitocondrial / Análisis Mutacional de ADN / Mutación Puntual / Polimorfismo de Nucleótido Simple / Enfermedades Mitocondriales Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: ADN Mitocondrial / Análisis Mutacional de ADN / Mutación Puntual / Polimorfismo de Nucleótido Simple / Enfermedades Mitocondriales Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Reino Unido