Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects

Mutations in the gene encoding transfer RNA (tRNA) nucleotidyltransferase, CCA-adding 1 (TRNT1), an enzyme essential for the synthesis of the 3′-terminal CCA sequence in tRNA molecules, are associated with a rare syndrome of congenital sideroblastic anemia, B cell immunodeficiency, periodic fevers,...

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Detalles Bibliográficos
Autores principales: Yang, Lu, Xue, Xiuhong, Zeng, Ting, Chen, Xuemei, Zhao, Qin, Tang, Xuemei, Yang, Jun, An, Yunfei, Zhao, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063413/
https://www.ncbi.nlm.nih.gov/pubmed/32181284
http://dx.doi.org/10.1016/j.gendis.2020.01.005

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