Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.
Grimberg
G
G
Department of Dermatology, University of Cologne, 50924 Cologne, Germany.
Hausser
I
I
Müller
F B
FB
Wodecki
K
K
Schaffrath
C
C
Krieg
T
T
Oji
V
V
Traupe
H
H
Arin
M J
MJ
D000328:Adult; D002675:Child, Preschool; D005260:Female; D006801:Humans; D053556:Keratin-1 / Q000235:genetics*; D053534:Keratin-9 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics*; D010146:Pain / Q000209:etiology; D010375:Pedigree; D012008:Recurrence; D012867:Skin / Q000737:chemistry / Q000473:pathology*
C491616:KRT1 protein, human; C507440:KRT9 protein, human; D053556:Keratin-1; D053534:Keratin-9