One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex
✍ Scribed by H. Y. Tang; W. D. Du; Y. Cui; X. Fan; C. Quan; Q. Y. Fang; F. S. Zhou; F. M. Yao; J. F. Wang; S. Yang; X. Zhang
- Book ID
- 108696582
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 348 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0307-6938
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📜 SIMILAR VOLUMES
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.
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