Article
An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
The Journal of investigative dermatology - 1 Dec 1998
Kremer H, Lavrijsen A P, McLean W H, Lane E B, Melchers D, Ruiter D J, Mariman E C, Steijlen P M
Abstract excerpt
Defective keratins are the cause of a number of hereditary disorders of the epidermis and other epithelia. The disease-causing mutations in keratins are clustered in the rod domain, and mutations in the helix boundary peptides cause the most severe forms of epidermal fragility syndromes. Siemens...
Topics
- Genetic Linkage
- Humans
- Hyperkeratosis, Epidermolytic
- Keratins
- Lod Score
- Microscopy, Electron
- Mutation
- Pedigree
- Protein Structure, Tertiary