Easy Method for Keratin 14 Gene Amplification to Exclude Pseudogene Sequences: New Keratin 5 and 14 Mutations in Epidermolysis Bullosa Simplex
✍ Scribed by Glász-Bóna, Annamária; Medvecz, Márta; Sajó, Rachel; Lepesi-Benkő, Réka; Tulassay, Zsolt; Katona, Mária; Hatvani, Zsófia; Blazsek, Antal; Kárpáti, Sarolta
- Book ID
- 109875194
- Publisher
- Nature Publishing Group
- Year
- 2009
- Tongue
- English
- Weight
- 76 KB
- Volume
- 129
- Category
- Article
- ISSN
- 0022-202X
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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
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.