Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients.
Oculocutaneous albinism (OCA) is a heterogeneous groups of autosomal-recessive genetic disorders. The molecular pathogenesis of several types of OCA have been clarified in the ten years since our first report in 1989 on a pathologic mutation of the tyrosinase gene. In this article, a new classification of OCA based on genetic evidence is briefly reviewed, and our study on Japanese patients with tyrosinase-negative OCA is summarized.
Tomita
Y
Y
Department of Dermatology, Nagoya University School of Medicine.
Miyamura
Y
Y
D016115:Albinism, Oculocutaneous / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics*
D014442:Monophenol Monooxygenase