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    J Dermatol Sci. 2002 Feb;28(2):102-5.

    A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).

    Nakamura E, Miyamura Y, Matsunaga J, Kano Y, Dakeishi-Hara M, Tanita M, Kono M, Tomita Y.

    Department of Dermatology, Akita University School of Medicine, 1-1-1 Hondo, 010-8543, Akita, Japan.

    Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life. In this paper, we report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA.

    PMID: 11858948 [PubMed - indexed for MEDLINE]

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