| Autor: |
I, Warmuth, P B, Cserhalmi-Friedman, P, Schneiderman, M E, Grossman, A M, Christiano |
| Rok vydání: |
2000 |
| Předmět: |
|
| Zdroj: |
Clinical and experimental dermatology. 25(3) |
| ISSN: |
0307-6938 |
| Popis: |
Epidermolytic palmoplantar keratoderma (EPPK) is a localized keratinization disorder caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We present a Hispanic pedigree spanning three generations, with affected individuals in all generations. Using polymerase chain reaction amplification and direct sequencing we demonstrated a previously reported missense mutation in KRT9, which is expressed almost exclusively in the skin of palms and soles. The C--T missense mutation R162W changes a basic amino acid (arginine) to a neutral amino acid (tryptophan). We describe this mutation in a Hispanic pedigree with EPPK for the first time, extending the finding of this mutation in other genetic backgrounds, and demonstrating the prevalence of this mutation in diverse populations. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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