单纯型大疱性表皮松解症的研究进展  

Advances in the study of epidermolysis bullosa simplex

作　　者：李嘉彦[1] 李薇[1] Li Jiayan;Li Wei(Guangzhou Institute of Dermatology,Guangzhou,Guangdong 510000,China)

机构地区：[1]广州市皮肤病防治所检验科,广东广州510000

出　　处：《医药前沿》2020年第13期27-28,共2页Journal of Frontiers of Medicine

基　　金：营养不良型大疱性表皮松解症基因突变研究。

摘　　要：大疱性表皮松解症在临床为单基因遗传类疾病。随着临床对于分子生物学领域的逐渐深入研究,在该症实现传统分类基础之上,进一步修订完善。近年临床对单纯性大疱性表皮松解症的临床研究方向包括其病发机理、分型,但临床治疗尚未取得有效方法。本文对近年临床有关单纯型大疱性表皮松解症的研究进展进行综述。Epidermolysis bullosa(epidermolysis bullosa)is a single-gene genetic disease in clinical practice.With the deepening of clinical research in the field of molecular biology,the traditional classification of the disease has been further revised and improved.In recent years,the clinical research direction of epidermolysis bullosa simplex,including its pathogenesis and classification,has not been effective in clinical treatment.This article will review the recent clinical research progress of epidermolysis bullosa simplex.

关 键 词：单纯性大疱性 表皮松解症 分子生物学 

分 类 号：R394[医药卫生—医学遗传学]