Article
Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.
The Journal of investigative dermatology - 1 Nov 1998
Smith F J, Maingi C, Covello S P, Higgins C, Schmidt M, Lane E B, Uitto J, Leigh I M, McLean W H
Abstract excerpt
We and others have previously shown that ichthyosis bullosa of Siemens, an autosomal dominant disorder characterized by epidermal thickening and blistering, is caused by mutations in the late-differentiation keratin K2e. Here, we have determined the genomic organization and complete sequence of t...
Topics
- Chromosome Mapping
- Exons
- Humans
- Hybrid Cells
- Ichthyosis
- Introns
- Keratin-2
- Keratins
- Mutation
- Pedigree
- Polymorphism, Genetic
- Protein Structure, Tertiary
- Sequence Analysis, DNA
- United Kingdom