A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin10 leads to bullous congenital ichthyosiform erythroderma.
Ishiko
A
A
Akiyama
M
M
Takizawa
Y
Y
Nishikawa
T
T
Shimizu
Y
Y
Shimizu
H
H
D000595:Amino Acid Sequence; D002675:Child, Preschool; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics*; D007633:Keratins / Q000235:genetics*; D007930:Leucine; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D014633:Valine
D007633:Keratins; D007930:Leucine; D014633:Valine