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Mutations of theTyrosinasegene in three Korean patients with Type I oculocutaneous albinism

โœ Scribed by Kyoung Chan Park; Sang Kyu Park; Yong Suk Lee; Sang Woong Youn; Byung Soon Park; Kyu Han Kim; Seung Taek Lee


Book ID
105397943
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
486 KB
Volume
41
Category
Article
ISSN
1435-232X

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Type I oculocutaneous albinism (OCA1) is an autosomal recessive disorder, which is caused by the reduction or the absence of tyrosinase activity in melanocytes of the skin, hair and eyes. Although tyrosinase mutations of OCA1 have been extensively analyzed in most populations worldwide, there is no