Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.

doi:10.1046/j.1523-1747.1998.00374.x

Back to search

Article

Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.

The Journal of investigative dermatology - 1 Nov 1998

Müller F B, Küster W, Bruckner-Tuderman L, Korge B P

Abstract excerpt

We report novel keratin 5 and 14 gene mutations in four unrelated German families with the localized subtype of the dominantly inherited blistering disease epidermolysis bullosa simplex Weber-Cockayne (MIM# 131800). The mutations are located in the keratin 14 L12 linker region (D273G), the kerati...

Topics

Amino Acid Sequence
Base Sequence
Epidermolysis Bullosa Simplex
Female
Genetic Variation
Germany
Humans
Keratin-14
Keratins
Male
Pedigree
Point Mutation
Protein Structure, Tertiary
Sequence Analysis

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.