A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene.
Shimomura
Y
Y
Sato
N
N
Tomiyama
K
K
Takahashi
A
A
Ito
M
M
D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics*; D007223:Infant; D053556:Keratin-1; D007633:Keratins / Q000235:genetics*; D008297:Male; D017354:Point Mutation / Q000235:genetics*
C491616:KRT1 protein, human; D053556:Keratin-1; D007633:Keratins