[HTML][HTML] Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy
J Ingles, T Sarina, L Yeates, L Hunt, I Macciocca… - Genetics in …, 2013 - Elsevier
Purpose Genetic testing for hypertrophic cardiomyopathy has been commercially available
for almost a decade; however, low mutation detection rate and cost have hindered uptake.
This study sought to identify clinical variables that can predict probands with hypertrophic
cardiomyopathy in whom a pathogenic mutation will be identified. Methods Probands
attending specialized cardiac genetic clinics across Australia over a 10-year period (2002–
2011), who met clinical diagnostic criteria for hypertrophic cardiomyopathy and who …
for almost a decade; however, low mutation detection rate and cost have hindered uptake.
This study sought to identify clinical variables that can predict probands with hypertrophic
cardiomyopathy in whom a pathogenic mutation will be identified. Methods Probands
attending specialized cardiac genetic clinics across Australia over a 10-year period (2002–
2011), who met clinical diagnostic criteria for hypertrophic cardiomyopathy and who …
以上显示的是最相近的搜索结果。 查看全部搜索结果