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

Document Type

Article

Author

Galatolo, D.; Doccini, S.; Battini, R.; Tessa, A.; Santorelli, F.M.; Kuo, M.E.; Antonellis, A.; Mullen, P.; Francklyn, C.; Meyer-Schuman, R.; Lieto, M.; Filla, A.

Source

In: Human Mutation. (Human Mutation, 1 July 2020, 41(7):1232-1237)

Subject

Language

English

ISSN

10981004
10597794

Online Access

Full Text (Wiley Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

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