| Literature DB >> 11858948 |
Eriko Nakamura1, Yoshinori Miyamura, Jun Matsunaga, Yoko Kano, Miwako Dakeishi-Hara, Muneo Tanita, Michihiro Kono, Yasushi Tomita.
Abstract
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.Entities:
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Year: 2002 PMID： 11858948 DOI： 10.1016/s0923-1811(01)00141-4
Source DB: PubMed Journal: J Dermatol Sci ISSN： 0923-1811 Impact factor: 4.563