Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects
Abstract 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 cra...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2023-05-01
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| coleção: | Molecular Genetics & Genomic Medicine |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1002/mgg3.2150 |
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