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- Title
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
- Authors
Arin, M J; Oji, V; Emmert, S; Hausser, I; Traupe, H; Krieg, T; Grimberg, G
- Abstract
Epidermolytic ichthyosis (EI) is a hereditary keratinization disorder caused by mutations in the keratin 1 (KRT1) or keratin 10 (KRT10) genes. In most cases of severe EI, heterozygous single point mutations are found at the highly conserved helix boundary motifs of KRT1 and KRT10 that play a critical role in filament formation. The presence of palmoplantar keratoderma suggests KRT1 mutations, whereas KRT10 mutations in most instances give rise to the nonpalmoplantar variants.
- Publication
The British journal of dermatology, 2011, Vol 164, Issue 2, p442
- ISSN
1365-2133
- Publication type
Journal Article
- DOI
10.1111/j.1365-2133.2010.10096.x