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Centenary Institute - Medical Research
Centenary Institute - Medical Research

Illumina TruSight Cardiomyopathy Sequencing Panel: Application to hypertrophic cardiomyopathy.

Familial hypertrophic cardiomyopathy (HCM) is the most common genetic myocardial disease, with prevalence 0.2% in the adult population. HCM is caused by mutations in at least 13 genes encoding sarcomere, or sarcomere-related, proteins. Screening of the most common disease genes identifies a mutation in 50% of HCM cases.

Bagnall, R; Ingles, J; Semsarian, C

Heart, Lung & Circulation. 2014; 23(suppl 2): e5

Date: 2014