Your browser doesn't support javascript.
loading
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.
Garland, Jennifer; Stephen, Joshi; Class, Bradley; Gruber, Angela; Ciccone, Carla; Poliak, Aaron; Hayes, Christina P; Singhal, Vandana; Slota, Christina; Perreault, John; Gavrilova, Ralitza; Shrader, Joseph A; Chittiboina, Prashant; Joe, Galen; Heiss, John; Gahl, William A; Huizing, Marjan; Carrillo, Nuria; Malicdan, May Christine V.
Afiliación
  • Garland J; Medical Genetics BranchNational Human Genome Research InstituteNational Institutes of HealthBethesdaMDUSA.
  • Stephen J; Therapeutics for Rare and Neglected DiseasesNational Center for Advancing Translational SciencesNational Institutes of HealthBethesdaMDUSA.
  • Class B; Medical Genetics BranchNational Human Genome Research InstituteNational Institutes of HealthBethesdaMDUSA.
  • Gruber A; Therapeutics for Rare and Neglected DiseasesNational Center for Advancing Translational SciencesNational Institutes of HealthBethesdaMDUSA.
  • Ciccone C; Prevention GeneticsMarshfieldWIUSA.
  • Poliak A; Medical Genetics BranchNational Human Genome Research InstituteNational Institutes of HealthBethesdaMDUSA.
  • Hayes CP; Medical Genetics BranchNational Human Genome Research InstituteNational Institutes of HealthBethesdaMDUSA.
  • Singhal V; Surgical Neurology BranchNational Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesdaMDUSA.
  • Slota C; Therapeutics for Rare and Neglected DiseasesNational Center for Advancing Translational SciencesNational Institutes of HealthBethesdaMDUSA.
  • Perreault J; Therapeutics for Rare and Neglected DiseasesNational Center for Advancing Translational SciencesNational Institutes of HealthBethesdaMDUSA.
  • Gavrilova R; Therapeutics for Rare and Neglected DiseasesNational Center for Advancing Translational SciencesNational Institutes of HealthBethesdaMDUSA.
  • Shrader JA; Office of the Clinical DirectorNational Institute of Child Health and Human DevelopmentNational Institutes of HealthBethesdaMDUSA.
  • Chittiboina P; Clinical Genomics and Department of NeurologyMayo ClinicRochesterMNUSA.
  • Joe G; Department of Rehabilitation MedicineClinical CenterNational Institutes of HealthBethesdaMDUSA.
  • Heiss J; Surgical Neurology BranchNational Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesdaMDUSA.
  • Gahl WA; Department of Rehabilitation MedicineClinical CenterNational Institutes of HealthBethesdaMDUSA.
  • Huizing M; Surgical Neurology BranchNational Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesdaMDUSA.
  • Carrillo N; Medical Genetics BranchNational Human Genome Research InstituteNational Institutes of HealthBethesdaMDUSA.
  • Malicdan MCV; NIH Undiagnosed Diseases ProgramCommon FundOffice of the DirectorNational Institutes of HealthBethesdaMDUSA.
Mol Genet Genomic Med ; 5(4): 410-417, 2017 Jul.
Article en En | MEDLINE | ID: mdl-28717665
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Mol Genet Genomic Med Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Mol Genet Genomic Med Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos