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A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue

✍ Scribed by J.O. Baek; H.Y. Lee; S.W. Oh; J.S. Lee; S.C. Kim; J.R. Lee; J.Y. Roh


Book ID
108671044
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
266 KB
Volume
162
Category
Article
ISSN
0007-0963

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Mutation analysis of the entire keratin
✍ Petra H.L. Schuilenga-Hut; Pieter v.d. Vlies; Marcel F. Jonkman; EsmΓ© Waanders; πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 47 KB πŸ‘ 1 views

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.