Pub. Date : 2005 Mar
PMID : 15732101
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | We have identified four mutations in senataxin in the French-Canadian population including two novel missense mutations: the 5927T-->G mutation changes the leucine encoded by codon 1976 to an arginine in the helicase domain (L1976R), and the 193G-->A mutation changes a glutamic acid encoded by codon 65 into a lysine in the N-terminal domain of the protein (E65K). | Arginine | senataxin | Homo sapiens |