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A novel mutation in the 1A helix of keratin 5 causes the localized variant of Epidermolysis Bullosa Simplex
Experimental Dermatology, 06/18/09

Bowden PE et al. - A novel missense mutation in the 1A helix of keratin 5 (K5) has been identified in a four-generation family with a history of the localized variant of epidermolysis bullosa simplex (EBS-loc), a genetic skin fragility disorder caused by K5 or K14 mutations. Genomic DNA was isolated from blood samples of patients and their healthy relatives, and all exons of the genes encoding K5 and K14 (KRT5 and KRT14) were amplified by PCR and directly sequenced.

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