A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene.
S
S
Muramatsu
Y
Y
Suga
J
J
Kon
S
S
Matsuba
Y
Y
Hashimoto
H
H
Ogawa
D000328:Adult; D004252:DNA Mutational Analysis; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D007564:Japan; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011503:Transglutaminases / Q000235:genetics*
D011503:Transglutaminases; C105804:transglutaminase 1