Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis.
Akiyama
M
M
Takizawa
Y
Y
Suzuki
Y
Y
Ishiko
A
A
Matsuo
I
I
Shimizu
H
H
D005260:Female; D006579:Heterozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011503:Transglutaminases / Q000235:genetics* / Q000378:metabolism
D011503:Transglutaminases; C105804:transglutaminase 1