Article
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
Human genetics - 1 Jun 1994
Hennies H C, Zehender D, Kunze J, Küster W, Reis A
Abstract excerpt
Mutations in the human keratin 9 gene have recently been shown to be involved in the etiology of palmoplantar keratoderma (PPK). We have investigated eleven unrelated German kindreds with the epidermolytic variant of PPK (EPPK) for mutations in the keratin 9 gene. We have identified two novel mutations, M156V and Q171P, both in the coil 1A segment of keratin 9. Mutation M156V was detected in two unrelated...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- Female
- Genetic Linkage
- Humans
- Keratins
- Keratoderma, Palmoplantar
- Male
- Molecular Sequence Data
- Mutation