A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjögren-Larsson syndrome.
Nakano
Hajime
H
Akasaka
Eijiro
E
Rokunohe
Daiki
D
Yokoyama
Shohei
S
Toyomaki
Yuka
Y
Umegaki
Noriko
N
Mitsuhashi
Yoshihiko
Y
Sawamura
Daisuke
D
D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000235:genetics*
D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase