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MBCL-30. NOVEL SMO MUTATION IN DESMOPLASTIC/NODULAR MEDULLOBLASTOMA: A CASE REPORT
Smoothened (SMO) is a transmembrane protein which is regulated by SHH (Sonic hedgehog) protein binding to PTCH1. SMO activation controls GLI which then translocates into the nucleus and activates target genes. The SHH subtype of medulloblastoma has been extensively studied to have mutations within t...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715488/ http://dx.doi.org/10.1093/neuonc/noaa222.506 |