MYH7
肥厚性心肌病
医学
肌球蛋白
基因
人口
基因突变
心脏病学
错义突变
突变
内科学
遗传学
生物化学
生物
基因亚型
环境卫生
作者
Francesca Girolami,Iacopo Olivotto,Ilaria Passerini,Elisabetta Zachara,Stefano Nistri,Federica Re,Silvia Fantini,Katia Baldini,Francesca Torricelli,Franco Cecchi
标识
DOI:10.2459/01.jcm.0000237908.26377.d6
摘要
The first comprehensive evaluation of MYBPC3, MYH7 and TNNT2 in an Italian HCM population allowed a genetic diagnosis in 57% of the patients. These data support a combined analysis of the three major sarcomeric genes as a rational and cost-effective initial approach to the molecular screening of HCM.
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