Insertion/deletion mutations of type I o
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Chang-Hai Tsai; Fuu-Jen Tsai; Jer-Yuarn Wu; Shuan-Pei Lin; Jang-Gowth Chang; Chi
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Article
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1999
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John Wiley and Sons
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English
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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