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Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
Breuss, Martin W; Nguyen, Thai; Srivatsan, Anjana; Leca, Ines; Tian, Guoling; Fritz, Tanja; Hansen, Andi H; Musaev, Damir; McEvoy-Venneri, Jennifer; James, Kiely N; Rosti, Rasim O; Scott, Eric; Tan, Uner; Kolodner, Richard D; Cowan, Nicholas J; Keays, David A; Gleeson, Joseph G.
Afiliación
  • Breuss MW; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA.
  • Nguyen T; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Srivatsan A; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA.
  • Leca I; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Tian G; Ludwig Institute for Cancer Research, University of California School of Medicine, San Diego, La Jolla, CA, USA.
  • Fritz T; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.
  • Hansen AH; Department of Biochemistry and Molecular Pharmacology, New York University Langone Medical Center, New York, NY, USA.
  • Musaev D; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.
  • McEvoy-Venneri J; Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Vienna, Austria.
  • James KN; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA.
  • Rosti RO; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Scott E; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA.
  • Tan U; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Kolodner RD; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA.
  • Cowan NJ; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Keays DA; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA.
  • Gleeson JG; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Hum Mol Genet ; 26(2): 258-269, 2017 01 15.
Article en En | MEDLINE | ID: mdl-28013290
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tubulina (Proteína) / Cerebelo / Malformaciones del Desarrollo Cortical / Microtúbulos / Malformaciones del Sistema Nervioso Límite: Adult / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tubulina (Proteína) / Cerebelo / Malformaciones del Desarrollo Cortical / Microtúbulos / Malformaciones del Sistema Nervioso Límite: Adult / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article