Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review

Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review

Abstract Background Aminoacyl-tRNA synthetases (ARSs) are indispensable enzymes for protein biosynthesis in cells. The phenylalanyl-tRNA synthetase (FARS1) located in cytoplasm which consists of two FARS alpha subunits (FARSA) and two FARS beta subunits (FARSB). Autosomal recessive inheritance of pa...

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Bibliographic Details
Main Authors: Ruolan Guo, Yuanying Chen, Xuyun Hu, Zhan Qi, Jun Guo, Yuchuan Li, Chanjuan Hao
Format: Article
Language:English
Published: BMC 2023-10-01
Series:BMC Medical Genomics
Subjects:
Exome sequencing
FARSA gene
FARSA-deficiency
Online Access:https://doi.org/10.1186/s12920-023-01662-0

Internet

https://doi.org/10.1186/s12920-023-01662-0

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