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Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.
Cannon, Stuart J; Hall, Timothy; Hawkes, Gareth; Colclough, Kevin; Boggan, Roisin M; Wright, Caroline F; Pickett, Sarah J; Hattersley, Andrew T; Weedon, Michael N; Patel, Kashyap A.
Affiliation
  • Cannon SJ; Department of Clinical and Biomedical Sciences, University of Exeter, 79 Heavitree Road, Exeter, EX2 4TH, United Kingdom.
  • Hall T; Department of Clinical and Biomedical Sciences, University of Exeter, 79 Heavitree Road, Exeter, EX2 4TH, United Kingdom.
  • Hawkes G; Department of Clinical and Biomedical Sciences, University of Exeter, 79 Heavitree Road, Exeter, EX2 4TH, United Kingdom.
  • Colclough K; Exeter Genomics Laboratory, RILD Building, Royal Devon University Healthcare NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, United Kingdom.
  • Boggan RM; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom.
  • Wright CF; Department of Clinical and Biomedical Sciences, University of Exeter, 79 Heavitree Road, Exeter, EX2 4TH, United Kingdom.
  • Pickett SJ; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom.
  • Hattersley AT; Department of Clinical and Biomedical Sciences, University of Exeter, 79 Heavitree Road, Exeter, EX2 4TH, United Kingdom.
  • Weedon MN; Department of Clinical and Biomedical Sciences, University of Exeter, 79 Heavitree Road, Exeter, EX2 4TH, United Kingdom.
  • Patel KA; Department of Clinical and Biomedical Sciences, University of Exeter, 79 Heavitree Road, Exeter, EX2 4TH, United Kingdom.
Hum Mol Genet ; 33(5): 465-474, 2024 Feb 18.
Article in En | MEDLINE | ID: mdl-37988592
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Deafness / Diabetes Mellitus, Type 2 / Heart Failure Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2024 Document type: Article Affiliation country: Reino Unido Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Deafness / Diabetes Mellitus, Type 2 / Heart Failure Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2024 Document type: Article Affiliation country: Reino Unido Country of publication: Reino Unido