Epidermolysis Bullosa Simplex

被引：39

作者：

Sprecher, Eli ^{[1
]}

机构：

[1] Tel Aviv Sourasky Med Ctr, Dept Dermatol, IL-64239 Tel Aviv, Israel

来源：

DERMATOLOGIC CLINICS | 2010年 / 28卷 / 01期

关键词：

Epidermolysis bullosa; Keratin; Blisters; Epidermis; Intermediate filaments; Mutation; DYSPLASIA/SKIN-FRAGILITY-SYNDROME; FRANCESCHETTI-JADASSOHN-SYNDROME; ALUMINUM-CHLORIDE HEXAHYDRATE; IIND INTERNATIONAL-SYMPOSIUM; DOWLING-DEGOS-DISEASE; DONOR SPLICE-SITE; DE-NOVO MUTATIONS; MOTTLED PIGMENTATION; PACHYONYCHIA-CONGENITA; PRENATAL-DIAGNOSIS;

D O I：

10.1016/j.det.2009.10.003

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

The prevalence of epidermolysis bullosa simplex (EBS) is estimated to be approximately 6 to 30 per 1 million live births. The disease is usually caused by missense mutations in KRT5 and KRT14, encoding keratins mostly expressed in the epidermal basal layer. Major advances in understanding of the molecular basis of EBS and other keratin disorders have led to the development of DNA-based prenatal testing.

引用

页码：23 / +

页数：11

共 111 条

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