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Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Bainbridge, Matthew N; Cooney, Erin; Miller, Marcus; Kennedy, Adam D; Wulff, Jacob E; Donti, Taraka; Jhangiani, Shalini N; Gibbs, Richard A; Elsea, Sarah H; Porter, Brenda E; Graham, Brett H.
Afiliação
  • Bainbridge MN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, United States; Codified Genomics LLC, Houston, TX, United States; Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, United States.
  • Cooney E; Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
  • Miller M; Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
  • Kennedy AD; Metabolon, Morrisville, NC, United States.
  • Wulff JE; Metabolon, Morrisville, NC, United States.
  • Donti T; Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, United States.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, United States.
  • Elsea SH; Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
  • Porter BE; Department of Neurology, Stanford University Medical School, Palo Alto, CA, United States.
  • Graham BH; Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States. Electronic address: bgraham@bcm.edu.
Mol Genet Metab ; 121(4): 314-319, 2017 08.
Article em En | MEDLINE | ID: mdl-28673551
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Ciclo do Ácido Cítrico / Simportadores Idioma: En Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Ciclo do Ácido Cítrico / Simportadores Idioma: En Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos