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MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Ganetzky, Rebecca D; Stendel, Claudia; McCormick, Elizabeth M; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy C; Klopstock, Thomas; Falk, Marni J.
  • Ganetzky RD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Stendel C; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • McCormick EM; Department of Psychiatry, Ludwig Maximilians University of Munich, Munich, Germany.
  • Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Goldstein AC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Klopstock T; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Hum Mutat ; 40(5): 499-515, 2019 05.
Article en En | MEDLINE | ID: mdl-30763462
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Enfermedades Mitocondriales / ATPasas de Translocación de Protón Mitocondriales Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Enfermedades Mitocondriales / ATPasas de Translocación de Protón Mitocondriales Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Año: 2019 Tipo del documento: Article