Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations.
Department of Dermatology, Yamagata University Faculty of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan. Electronic address: k-okamura@med.id.yamagata-u.ac.jp.
Ken
K
Okamura
Department of Dermatology, Yamagata University Faculty of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan.
Junko
J
Yoshizawa
Department of Dermatology, Yamagata University Faculty of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan.
Yuko
Y
Abe
Division of Dermatology, Tsuchiya General Hospital, Hiroshima, Japan.
Keiko
K
Hanaoka
Department of Dermatology, Nippon Medical School Tamanagayama Hospital, Tokyo, Japan.
Naoyuki
N
Higashi
Department of Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan.
Yaei
Y
Togawa
Department of Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan.
Seitaro
S
Nakagawa
Department of Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan.
Naotomo
N
Kambe
Department of Dermatology, Nippon Medical School, Tokyo, Japan.
Yoko
Y
Funasaka
Department of Dermatology, Kochi Medical School, Kochi University, Kochi, Japan.
Kentaro
K
Ohko
Department of Dermatology, Yamagata University Faculty of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan.
Yutaka
Y
Hozumi
Department of Dermatology, Yamagata University Faculty of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan.
Tamio
T
Suzuki
D000368:Aged; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000951:Antigens, Neoplasm / Q000235:genetics; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D026901:Membrane Transport Proteins / Q000235:genetics; D008875:Middle Aged; D014442:Monophenol Monooxygenase / Q000235:genetics; D020125:Mutation, Missense; D010088:Oxidoreductases / Q000235:genetics
D000951:Antigens, Neoplasm; C102160:HPS1 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; C510061:SLC45A2 protein, human; D010088:Oxidoreductases; C489799:TYRP1 protein, human; D014442:Monophenol Monooxygenase
Gene diagnosis; Melanin; Pigment disorder