Ontology highlight
ABSTRACT:
SUBMITTER: Kapplinger JD
PROVIDER: S-EPMC4849132 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Kapplinger Jamie D JD Landstrom Andrew P AP Bos J Martijn JM Salisbury Benjamin A BA Callis Thomas E TE Ackerman Michael J MJ
Journal of cardiovascular translational research 20140208 3
Despite the significant progress that has been made in identifying disease-associated mutations, the utility of the hypertrophic cardiomyopathy (HCM) genetic test is limited by a lack of understanding of the background genetic variation inherent to these sarcomeric genes in seemingly healthy subjects. This study represents the first comprehensive analysis of genetic variation in 427 ostensibly healthy individuals for the HCM genetic test using the "gold standard" Sanger sequencing method validat ...[more]