Article
A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.
The Journal of investigative dermatology - 1 Sept 1998
Galligan P, Listwan P, Siller G M, Rothnagel J A
Abstract excerpt
We have identified a novel mutation within the linker L12 region of keratin 5 (K5) in a family with the Köbner variant of epidermolysis bullosa simplex. The pattern of inheritance of the disorder in this family is consistent with an autosomal dominant mode of transmission. Affected individuals de...
Topics
- Alanine
- Amino Acid Sequence
- Amino Acid Substitution
- Epidermolysis Bullosa Simplex
- Genes, Dominant
- Genetic Variation
- Humans
- Keratins
- Molecular Sequence Data
- Mutation
- Protein Structure, Secondary
- Protein Structure, Tertiary
- Sequence Homology, Amino Acid
- Valine