基因与慢性阻塞性肺疾病。
Genes and chronic obstructive pulmonary disease.
机构信息
Division of Pulmonary and Critical Care Medicine, Department of Medicine, Morehouse School of Medicine, Atlanta, GA 30310-1495, USA.
出版信息
Med Clin North Am. 2012 Jul;96(4):699-711. doi: 10.1016/j.mcna.2012.02.006. Epub 2012 Mar 6.
Abstract
Although much remains to be done, recent advances and the advent of new methodologies are promising and should yield increased understanding of the genetic and epigenetic mechanisms influencing the pathogenesis of COPD, both related and unrelated to severe AAT deficiency. Such understanding should ultimately be translated into novel approaches to prevent, diagnose, and treat COPD.
摘要
尽管仍有许多工作要做，但最近的进展和新方法的出现是有希望的，应该会增加对影响 COPD 发病机制的遗传和表观遗传机制的理解，这些机制与严重的 AAT 缺乏有关和无关。这种理解最终应该转化为预防、诊断和治疗 COPD 的新方法。
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2
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