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RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.
Fratter, C; Raman, P; Alston, C L; Blakely, E L; Craig, K; Smith, C; Evans, J; Seller, A; Czermin, B; Hanna, M G; Poulton, J; Brierley, C; Staunton, T G; Turnpenny, P D; Schaefer, A M; Chinnery, P F; Horvath, R; Turnbull, D M; Gorman, G S; Taylor, R W.
Affiliation
  • Fratter C; Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UK.
Neurology ; 76(23): 2032-4, 2011 Jun 07.
Article in En | MEDLINE | ID: mdl-21646632
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ribonucleotide Reductases / DNA, Mitochondrial / Ophthalmoplegia, Chronic Progressive External / Gene Deletion / Cell Cycle Proteins / Genetic Predisposition to Disease / Mutation Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male Language: En Journal: Neurology Year: 2011 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ribonucleotide Reductases / DNA, Mitochondrial / Ophthalmoplegia, Chronic Progressive External / Gene Deletion / Cell Cycle Proteins / Genetic Predisposition to Disease / Mutation Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male Language: En Journal: Neurology Year: 2011 Document type: Article Affiliation country: