- 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...
Expand abstract - Publication status:
- Published
- 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:cdbedfc3-f4ab-4b54-8c1f-0a72a9ced153
- Source identifiers:
-
349894
- Local pid:
- pubs:349894
- Language:
- English
- Keywords:
- Copyright date:
- 2013
Journal article
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
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