Article
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
The Journal of investigative dermatology - 1 Jan 1994
McLean W H, Eady R A, Dopping-Hepenstal P J, McMillan J R, Leigh I M, Navsaria H A, Higgins C, Harper J I, Paige D G, Morley S M
Abstract excerpt
Bullous congenital ichthyosiform erythroderma is a human hereditary skin disorder in which suprabasal keratinocytes rupture. Recent reports have implicated keratins K1 and K10 in this disease. Here we describe four diverse keratin mutations that are all significantly associated with this disease....
Topics
- Amino Acid Sequence
- Base Sequence
- DNA
- Female
- Humans
- Hyperkeratosis, Epidermolytic
- Keratins
- Male
- Microscopy, Electron
- Microscopy, Immunoelectron
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction