A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene.
Y
Y
Shimomura
N
N
Sato
K
K
Tomiyama
A
A
Takahashi
M
M
Ito
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