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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
Simon, Mariella T; Eftekharian, Shaya S; Stover, Alexander E; Osborne, Aaron F; Braffman, Bruce H; Chang, Richard C; Wang, Raymond Y; Steenari, Maija R; Tang, Sha; Hwu, Paul Wuh-Liang; Taft, Ryan J; Benke, Paul J; Abdenur, Jose E.
Afiliação
  • Simon MT; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA 92868, USA; Department of Human Genetics, University of California Los Angeles, CA 90095, USA.
  • Eftekharian SS; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA 92868, USA.
  • Stover AE; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA 92868, USA.
  • Osborne AF; Charles E. Schmidt College of Medicine, Boca Raton, FL 33431, USA.
  • Braffman BH; Department of Radiology, Memorial Healthcare System, Hollywood, FL 33021, USA.
  • Chang RC; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA 92868, USA; Department of Pediatrics, University of California Irvine, Orange, CA 92868, USA.
  • Wang RY; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA 92868, USA; Department of Pediatrics, University of California Irvine, Orange, CA 92868, USA.
  • Steenari MR; Division of Neurology, CHOC Children's Hospital, Orange, CA, 92868, USA; Department of Pediatrics, University of California Irvine, Orange, CA 92868, USA.
  • Tang S; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Hwu PW; Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
  • Taft RJ; Illumina Inc., San Diego, CA 92122, USA.
  • Benke PJ; Charles E. Schmidt College of Medicine, Boca Raton, FL 33431, USA; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA.
  • Abdenur JE; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA 92868, USA; Department of Pediatrics, University of California Irvine, Orange, CA 92868, USA. Electronic address: jabdenur@choc.org.
Mol Genet Metab ; 126(1): 53-63, 2019 01.
Article em En | MEDLINE | ID: mdl-30473481
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article