Article
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.
The Journal of investigative dermatology - 1 Nov 1996
Jonkman M F, Heeres K, Pas H H, van Luyn M J, Elema J D, Corden L D, Smith F J, McLean W H, Ramaekers F C, Burton M, Scheffer H
Abstract excerpt
We studied a kindred with recessive epidermolysis bullosa simplex in which the affected members lacked expression of the basal cell keratin 14. The patients had severe generalized skin blistering that improved slightly with age. The basal cells of the patients did not express keratin 14 and conta...
Topics
- Adult
- Aged
- Animals
- Cells, Cultured
- Epidermolysis Bullosa Simplex
- Female
- Humans
- Intermediate Filaments
- Keratins
- Male
- Mice
- Middle Aged
- Mutation
- Nevus
- RNA Splicing
- Skin