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Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
Deeb, Kristin K; Bedoyan, Jirair K; Wang, Raymond; Sremba, Leighann; Schroeder, Molly C; Grahame, George J; Boyer, Monica; McCandless, Shawn E; Kerr, Douglas S; Zhang, Shulin.
Afiliación
  • Deeb KK; Center for Human Genetics Laboratory University Hospitals Case Medical Center, Cleveland, OH, USA.
  • Bedoyan JK; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, USA.
  • Wang R; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA.
  • Sremba L; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA.
  • Schroeder MC; Center for Human Genetics Laboratory University Hospitals Case Medical Center, Cleveland, OH, USA.
  • Grahame GJ; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, USA.
  • Boyer M; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA.
  • McCandless SE; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, USA.
  • Kerr DS; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, USA.
  • Zhang S; Center for Human Genetics Laboratory University Hospitals Case Medical Center, Cleveland, OH, USA.
Mol Genet Metab Rep ; 1: 362-367, 2014.
Article en En | MEDLINE | ID: mdl-27896109
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos