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Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

✍ Scribed by Rothnagel, Joseph A.; Traupe, Heiko; Wojcik, Sonja; Huber, Marcel; Hohl, Daniel; Pittelkow, Mark R.; Saeki, Hidehisa; Ishibashi, Yasumasa; Roop, Dennis R.

Book ID: 109916669
Publisher: Nature Publishing Group
Year: 1994
Tongue: English
Weight: 752 KB
Volume: 7
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0894-485

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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.