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Exon 11 deletion in the myocyte enhancer factor (MEF)2A and early onset coronary artery disease gene in a Sicilian family

机译:西西里人家庭中的心肌细胞增强因子(MEF)2A和早期发病的冠状动脉疾病基因外显子11缺失

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摘要

Aims: We investigated the prevalence of the myocyte enhancer factor (MEF)2A exon 11 deletion, a putative coronary artery disease (CAD) susceptibility gene, in patients referred for coronary angiography. Methods and results: In total, 1079 consecutive patients referred for coronary angiography in the GENICA Study were genotyped and 301 low-risk subjects were used as controls. One patient with early onset three vessels CAD, carrying the MEF2A deletion was found in the GENICA Study cohort and none in the control group. Conclusion: In a cohort of patients undergoing coronary angiography for suspected CAD the MEF2A exon 11 deletion occurred in 0.09%.
机译:目的:我们调查了用于冠状动脉造影的患者中心肌细胞增强因子(MEF)2A外显子11缺失(一种假定的冠状动脉疾病(CAD)敏感性基因)的患病率。方法和结果:总共对GENICA研究中转诊的1079例连续患者进行了基因分型,并以301名低危受试者作为对照。在GENICA研究队列中发现一名患者,该患者早期发作了3例血管CAD,带有MEF2A缺失,而对照组中则没有。结论:在一群因疑似CAD而接受冠状动脉造影的患者中,MEF2A外显子11缺失发生率为0.09%。

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