Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome

Mutations in histidyl-tRNA synthetase (HARS1), an enzyme that charges tRNA with the amino acid histidine in the cytoplasm, have only been associated to date with autosomal recessive Usher syndrome type III and autosomal dominant Charcot-Marie-Tooth disease type 2W. Using massive parallel sequencing,...

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發表在:Hum Mutat
Main Authors: Galatolo, Daniele, Kuo, Molly E., Mullen, Patrick, Meyer-Schuman, Rebecca, Doccini, Stefano, Battini, Roberta, Lieto, Maria, Tessa, Alessandra, Filla, Alessandro, Francklyn, Christopher, Antonellis, Anthony, Santorelli, Filippo M.
格式: Artigo
語言:Inglês
出版: 2020
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7323910/
https://ncbi.nlm.nih.gov/pubmed/32333447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24024
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