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Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.
Voskobiynyk, Yuliya; Battu, Gopal; Felker, Stephanie A; Cochran, J Nicholas; Newton, Megan P; Lambert, Laura J; Kesterson, Robert A; Myers, Richard M; Cooper, Gregory M; Roberson, Erik D; Barsh, Gregory S.
Afiliación
  • Voskobiynyk Y; Center for Neurodegeneration and Experimental Therapeutics, Alzheimer's Disease Center, and Evelyn F. McKnight Brain Institute, Departments, of Neurology and Neurobiology, University of Alabama at Birmingham, Birmingham, AL, United States of America.
  • Battu G; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.
  • Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.
  • Cochran JN; Department of Department of Biotechnology Science and Engineering, University of Alabama in Huntsville, Hunstville, AL, United States AL, United States of America.
  • Newton MP; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.
  • Lambert LJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America.
  • Kesterson RA; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America.
  • Myers RM; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America.
  • Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.
  • Roberson ED; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.
  • Barsh GS; Center for Neurodegeneration and Experimental Therapeutics, Alzheimer's Disease Center, and Evelyn F. McKnight Brain Institute, Departments, of Neurology and Neurobiology, University of Alabama at Birmingham, Birmingham, AL, United States of America.
PLoS Genet ; 17(1): e1009195, 2021 01.
Article en En | MEDLINE | ID: mdl-33411788

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas / Canal de Sodio Activado por Voltaje NAV1.1 / Canal de Sodio Activado por Voltaje NAV1.6 Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas / Canal de Sodio Activado por Voltaje NAV1.1 / Canal de Sodio Activado por Voltaje NAV1.6 Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos