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1766155 
Journal Article 
Epidermolysis Bullosa Simplex 
Sprecher, Eli 
2010 
Yes 
Dermatologic Clinics
ISSN: 0733-8635 
28 
1 
23-+ 
19945613 
WOS:000278970000004 
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. 
Epidermolysis bullosa; Keratin; Blisters; Epidermis; Intermediate filaments; Mutation