A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.
Suzuki
T
T
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Show-ku, Nagoya 466-8550, Japan. tasuzuki@med.nagoya-u.ac.jp
Inagaki
K
K
Fukai
K
K
Obana
A
A
Lee
S-T
ST
Tomita
Y
Y
D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000951:Antigens, Neoplasm; D044466:Asian People / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007723:Korea; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
D000951:Antigens, Neoplasm; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C510061:SLC45A2 protein, human