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NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis, Virginia; Al Dubaisi, Rehab; Maclean, Andrew E; Hall, Kathy; Weiss, Lan; Stover, Alexander E; Schwartz, Philip H; Berg, Bethany; Cheng, Cheng; Parikh, Sumit; Conner, Blair R; Wu, Sitao; Hasso, Anton N; Scott, Daryl A; Koenig, Mary Kay; Karam, Rachid; Tang, Sha; Smith, Moyra; Chao, Elizabeth; Balk, Janneke; Hatchwell, Eli; Eis, Peggy S.
Afiliación
  • Kimonis V; Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA vkimonis@uci.edu pegeis@populationbio.com.
  • Al Dubaisi R; Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA.
  • Maclean AE; Department of Biological Chemistry, John Innes Centre, Norwich, Norfolk, UK.
  • Hall K; Wellcome Centre for Integrative Parasitology, University of Glasgow, Glasgow, Glasgow, UK.
  • Weiss L; Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA.
  • Stover AE; Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA.
  • Schwartz PH; CHOC National Human Neural Stem Cell Resource, Children's Hospital of Orange County Research Institute, Orange, California, USA.
  • Berg B; CHOC National Human Neural Stem Cell Resource, Children's Hospital of Orange County Research Institute, Orange, California, USA.
  • Cheng C; Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA.
  • Parikh S; Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA.
  • Conner BR; Center for Pediatric Neurology, Cleveland Clinic, Cleveland, Ohio, USA.
  • Wu S; Ambry Genetics Corp, Aliso Viejo, California, USA.
  • Hasso AN; Ambry Genetics Corp, Aliso Viejo, California, USA.
  • Scott DA; Radiological Sciences, University of California Irvine School of Medicine, Irvine, California, USA.
  • Koenig MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Karam R; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.
  • Tang S; Department of Pediatrics, University of Texas McGovern Medical School, Houston, Texas, USA.
  • Smith M; Ambry Genetics Corp, Aliso Viejo, California, USA.
  • Chao E; Ambry Genetics Corp, Aliso Viejo, California, USA.
  • Balk J; Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA.
  • Hatchwell E; Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA.
  • Eis PS; Ambry Genetics Corp, Aliso Viejo, California, USA.
J Med Genet ; 58(5): 314-325, 2021 05.
Article en En | MEDLINE | ID: mdl-32518176
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Mitocondriales / Proteínas Mitocondriales Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Mitocondriales / Proteínas Mitocondriales Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2021 Tipo del documento: Article