Deciphering the role of missense mutations in Epidermolysis Bullosa Simplex
Article in Press
Epidermolysis Bullosa Simplex (EBS) is a genodermatosis characterized by the production of superficial bullous lesions on the skin as a result of minor mechanical or frictional injury. It is caused by mutation in either the Keratin 5(KRT5) or Keratin 14(KRT14) gene. In this paper we used various computational approaches to understand the effect of select missense mutations in KRT5. The crystal structure of 2B domain of the...
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