Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report

• Main Authors: Ting-Ting Zou (Author), Hua-Qin Sun (Author), Yu Zhu (Author), Tian-Tian He (Author), Wen-Wu Ling (Author), Hong-Mei Zhu (Author), Zi-Yuan Lin (Author), Yan-Yan Liu (Author), Shan-Ling Liu (Author), He Wang (Author), Xue-Mei Zhang (Author)
• Format: Book
• Published: BMC, 2022-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Aminoacyl-tRNA synthetases (ARSs) are enzymes responsible for attaching amino acids to tRNA, which enables protein synthesis. Mutations in isoleucyl-tRNA synthetase (IARS1) have recently been reported to be a genetic cause for growth retardation, intellectual disability, muscular...