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Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
Chung, Wendy K; Martin, Kimberly; Jalas, Chaim; Braddock, Stephen R; Juusola, Jane; Monaghan, Kristin G; Warner, Barbara; Franks, Samuel; Yudkoff, Marc; Lulis, Lauren; Rhodes, Roy H; Prasad, Vinay; Torti, Erin; Cho, Megan T; Shinawi, Marwan.
Afiliación
  • Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York, USA.
  • Martin K; Genetics Division, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri, USA.
  • Jalas C; Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York, USA.
  • Braddock SR; Genetics Division, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri, USA.
  • Juusola J; GeneDx, Gaithersburg, Maryland, USA.
  • Monaghan KG; GeneDx, Gaithersburg, Maryland, USA.
  • Warner B; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Franks S; Departments of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Yudkoff M; Division of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Lulis L; Division of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Rhodes RH; Department of Pathology, Rutgers Robert Wood Johnson Medical School, Rutgers University, Piscataway, New Jersey, USA.
  • Prasad V; Department of Pathology, Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio, USA.
  • Torti E; Genetics Division, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri, USA.
  • Cho MT; GeneDx, Gaithersburg, Maryland, USA.
  • Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
J Med Genet ; 52(9): 627-35, 2015 Sep.
Article en En | MEDLINE | ID: mdl-26185144
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalomiopatías Mitocondriales / Mutación Missense / Proteínas Mitocondriales Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn / Pregnancy Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
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Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalomiopatías Mitocondriales / Mutación Missense / Proteínas Mitocondriales Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn / Pregnancy Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos