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Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
Simon, Mariella T; Ng, Bobby G; Friederich, Marisa W; Wang, Raymond Y; Boyer, Monica; Kircher, Martin; Collard, Renata; Buckingham, Kati J; Chang, Richard; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J; Van Hove, Johan L K; Freeze, Hudson H; Abdenur, Jose E.
Afiliação
  • Simon MT; Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA; Department of Developmental and Cell Biology, University of California Irvine, Irvine, CA, USA.
  • Ng BG; Human Genetics Program, Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA, USA.
  • Friederich MW; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Wang RY; Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA; Department of Pediatrics, University of California Irvine, Irvine, CA, USA.
  • Boyer M; Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA.
  • Kircher M; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Collard R; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Buckingham KJ; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Chang R; Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA; Department of Pediatrics, University of California Irvine, Irvine, CA, USA.
  • Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA, USA.
  • Abdenur JE; Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA; Department of Pediatrics, University of California Irvine, Irvine, CA, USA. Electronic address: jabdenur@choc.org.
Mitochondrion ; 34: 84-90, 2017 05.
Article em En | MEDLINE | ID: mdl-28216230
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosforilação Oxidativa / Anormalidades Congênitas / Expressão Gênica / Fator G para Elongação de Peptídeos / Sítios de Splice de RNA / Proteínas Mitocondriais Tipo de estudo: Etiology_studies Limite: Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosforilação Oxidativa / Anormalidades Congênitas / Expressão Gênica / Fator G para Elongação de Peptídeos / Sítios de Splice de RNA / Proteínas Mitocondriais Tipo de estudo: Etiology_studies Limite: Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article