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Article

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

BMC medical genomics - 13 Oct 2023

Guo Ruolan, Chen Yuanying, Hu Xuyun, Qi Zhan, Guo Jun, Li Yuchuan, Hao Chanjuan

Abstract excerpt

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 pathogenic variants of FARSA or FARSB can result in defective FARS1 which are characterized by interstitial lung disease,...

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PMID: 37833669
DOI: 10.1186/s12920-023-01662-0
PMCID: PMC10571242

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