Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. [electronic resource]
- Human mutation 03 2018
- 415-432 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.23380 doi
Amino Acid Sequence Aminoacylation Axons--pathology Biocatalysis Catalytic Domain Conserved Sequence Female Genetic Complementation Test Histidine-tRNA Ligase--chemistry Humans Kinetics Male Mutation--genetics Pedigree Peripheral Nervous System Diseases--enzymology Protein Multimerization Substrate Specificity