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

• Main Authors: Ruolan Guo (Author), Yuanying Chen (Author), Xuyun Hu (Author), Zhan Qi (Author), Jun Guo (Author), Yuchuan Li (Author), Chanjuan Hao (Author)
• Format: Book
• Published: BMC, 2023-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...