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...

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Detalles Bibliográficos
Autores principales: Wang, Fang, Cheng, Haiqin, Zhang, Qin, Guo, Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
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

Internet

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

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