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A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Abstract:

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for ligating amino acids to cognate tRNA molecules. Mutations in four genes encoding an ARS have been implicated in inherited peripheral neuropathy with an axonal pathology, suggesting that all ARS genes are relevant candidates for disease in patients with related phenotypes. Here, we present results from a mutation screen of the histidyl-tRNA synthetase (HARS) gene in a large cohort of patients with peripheral n...

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Publisher copy:
10.1002/humu.22210

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Journal:
Human Mutation
Volume:
34
Issue:
1
Pages:
191-199
Publication date:
2013-01-05
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
URN:
uuid:535f8593-5f85-48f2-a77b-0d631344d0e3
Source identifiers:
371439
Local pid:
pubs:371439

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