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GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
Gotoh, Leo; Inoue, Ken; Helman, Guy; Mora, Sara; Maski, Kiran; Soul, Janet S; Bloom, Miriam; Evans, Sarah H; Goto, Yu-Ichi; Caldovic, Ljubica; Hobson, Grace M; Vanderver, Adeline.
Afiliación
  • Gotoh L; Department of Mental Retardation and Birth Defects Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Inoue K; Department of Mental Retardation and Birth Defects Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Helman G; Department of Neurology, Children's National Medical Center, Washington, DC, USA.
  • Mora S; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Maski K; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • Soul JS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • Bloom M; Department of Pediatrics, Children's National Medical Center, Washington, DC, USA.
  • Evans SH; Department of Physical Medicine and Rehabilitation, Children's National Medical Center, Washington, DC, USA.
  • Goto YI; Department of Mental Retardation and Birth Defects Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Caldovic L; Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA.
  • Hobson GM; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA; Department of Biological Sciences, University of Delaware, Newark, DE, USA.
  • Vanderver A; Department of Neurology, Children's National Medical Center, Washington, DC, USA; Department of Pediatrics, Children's National Medical Center, Washington, DC, USA; Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address: avanderv@childrensnational.org.
Mol Genet Metab ; 111(3): 393-398, 2014 03.
Article en En | MEDLINE | ID: mdl-24374284

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Regiones Promotoras Genéticas / Conexinas / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Factores de Transcripción SOXE Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2014 Tipo del documento: Article País de afiliación: Japón

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Regiones Promotoras Genéticas / Conexinas / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Factores de Transcripción SOXE Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2014 Tipo del documento: Article País de afiliación: Japón