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

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 hypoton...

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Detalles Bibliográficos
Autores principales: Zou, Ting-Ting, Sun, Hua-Qin, Zhu, Yu, He, Tian-Tian, Ling, Wen-Wu, Zhu, Hong-Mei, Lin, Zi-Yuan, Liu, Yan-Yan, Liu, Shan-Ling, Wang, He, Zhang, Xue-Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9172121/
https://www.ncbi.nlm.nih.gov/pubmed/35668413
http://dx.doi.org/10.1186/s12887-022-03371-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9172121/
https://www.ncbi.nlm.nih.gov/pubmed/35668413
http://dx.doi.org/10.1186/s12887-022-03371-6

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