Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules

Br J Dermatol. 2009 Feb;160(2):446-9. doi: 10.1111/j.1365-2133.2008.08831.x. Epub 2008 Sep 15.

Authors

G Grimberg¹, I Hausser, F B Müller, K Wodecki, C Schaffrath, T Krieg, V Oji, H Traupe, M J Arin

Affiliation

¹ Department of Dermatology, University of Cologne, 50924 Cologne, Germany.

PMID: 18795921
DOI: 10.1111/j.1365-2133.2008.08831.x

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Child, Preschool
Female
Humans
Keratin-1 / genetics*
Keratin-9 / genetics*
Keratoderma, Palmoplantar / genetics*
Keratoderma, Palmoplantar / pathology
Male
Mutation / genetics*
Pain / etiology
Pedigree
Recurrence
Skin / chemistry
Skin / pathology*

Substances

KRT1 protein, human
KRT9 protein, human
Keratin-1
Keratin-9