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Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects
BACKGROUND: Rare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood. Insufficiency of the ribosomal biogenesis gene treacle ribosome biogenesis factor 1(Tcof1) results in cranial NTDs and craniofacia...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178795/ https://www.ncbi.nlm.nih.gov/pubmed/36808708 http://dx.doi.org/10.1002/mgg3.2150 |