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Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex

✍ Scribed by Kang, Tae-Won; Lee, Jeong Seon; Kim, Song-Ee; Oh, Se-Woong; Kim, Soo-Chan

Book ID
119293564
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
444 KB
Volume
57
Category
Article
ISSN
0923-1811

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Mutation analysis of the entire keratin
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations
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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.

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Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant genetic skin disorders caused by mutations of the keratin genes KRT5 and KRT14. It is characterised by lysis of basal keratinocytes leading to the development of intraepidermal blisters upon minor mechanical trauma. We investigated