Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects

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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Bibliographic Details
Main Authors: Fang Wang, Haiqin Cheng, Qin Zhang, Jin Guo
Format: Article
Language:English
Published: Wiley 2023-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
apoptosis
missense mutation
neural tube defects
ribosomal biogenesis
TCOF1
Online Access:https://doi.org/10.1002/mgg3.2150

Internet

https://doi.org/10.1002/mgg3.2150

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