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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Hlavní autoři: Lu Yang, Xiuhong Xue, Ting Zeng, Xuemei Chen, Qin Zhao, Xuemei Tang, Jun Yang, Yunfei An, Xiaodong Zhao
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2020-03-01
Edice:Genes and Diseases
On-line přístup:http://www.sciencedirect.com/science/article/pii/S2352304220300131
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