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

• Príomhchruthaitheoirí: Ting-Ting Zou (Údar), Hua-Qin Sun (Údar), Yu Zhu (Údar), Tian-Tian He (Údar), Wen-Wu Ling (Údar), Hong-Mei Zhu (Údar), Zi-Yuan Lin (Údar), Yan-Yan Liu (Údar), Shan-Ling Liu (Údar), He Wang (Údar), Xue-Mei Zhang (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2022-06-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: 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...