Article
Toronto hypertrophic cardiomyopathy genotype score for prediction of a positive genotype in hypertrophic cardiomyopathy.
Circulation. Cardiovascular genetics - 1 Feb 2013
Gruner Christiane, Ivanov Joan, Care Melanie, Williams Lynne, Moravsky Gil, Yang Hua, Laczay Balint, Siminovitch Katherine, Woo Anna, Rakowski Harry
Abstract excerpt
BACKGROUND: Genotyping in hypertrophic cardiomyopathy has gained increasing attention in the past decade. Its major role is for family screening and rarely influences decision-making processes in any individual patient. It is associated with substantial costs, and cost-effectiveness can only be achieved in the presence of high-detection rates for disease-causing sarcomere protein gene mutations. Therefore, our...
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