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Identification of mutational hot spots in the suprabasal keratin genes from patients with epidermolytic hyperkeratosis

✍ Scribed by Roop, D.; Rothnagel, J.; Dominey, A.; Fisher, M.; Axtell, S.; Pittelkow, M.; Hohl, D.

Book ID: 122380290
Publisher: Elsevier Science
Year: 1993
Tongue: English
Weight: 100 KB
Volume: 6
Category: Article
ISSN: 0923-1811
DOI: 10.1016/0923-1811(93)90953-M

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Epidermolysis bullosa simplex is a group of blistering skin disorders caused by defects in one of the keratin genes, KRT5 and KRT14. Previously reported KRT5 and KRT14 mutations are clustered in several hotspots, namely the rod ends of the 1A and 2B domains and in the non-helical linker region L12.