Ontology highlight
ABSTRACT:
SUBMITTER: Xiong Q
PROVIDER: S-EPMC4105333 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Xiong Q Q Cao L L Hu J J Marian A J AJ Hong K K
The pharmacogenomics journal 20140121 4
The human genome contains over 4 million variant sites, as compared with the reference genome, including rare sequence variants, which have the potential to exert large phenotypic effects, such as susceptibility to drug toxicity. We report identification and functional characterization of a rare non-synonymous (p.A1427S) variant in the SCN5A gene that was associated with incessant and lethal ventricular tachycardia and fibrillation after administration of lidocaine to a patient with acute myocar ...[more]