Published January 1, 2020
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A homozygous missense variant inTUBGCP2alter the g-tubulin ring complex leading to abnormal cortical development, pontocerebellar atrophy and altered myelination
Creators
- 1. Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkey
- 2. Dokuz Eylul Univ, Dept Pediat Neurol, Fac Med, Izmir, Turkey
- 3. Diyarbakir Mem Hosp, Pediat Neurol Clin, Diyarbakir, Turkey
- 4. Barcelona Inst Sci & Technol, Ctr Genom Regulat, Barcelona, Spain
- 5. Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, IBG izmir, Izmir, Turkey
- 6. Newcastle Univ, Inst Translat & Clin Res, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
- 7. Univ Cambridge, Sch Clin Med, John Geest Cambridge Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England
- 8. Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain
- 9. Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
- 10. Barcelona Inst Sci & Technol, Ctr Genom Regulat CRG, Barcelona, Spain
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