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- W1995191837 abstract "Oculocutaneous albinism is an autosomal recessive genetic disorder. Several types of oculocutaneous albinism are caused by mutation in related genes. Oculocutaneous albinism 1 is associated with the tyrosinase gene. The human tyrosinase gene (TYR) encodes tyrosinase, a key enzyme in melanin biosynthesis. As exon 1 of the gene shows an MboI-RFLP within codon 192 in Caucasians, we studied allele frequencies of MboI 192 polymorphism in 200 chromosomes from 100 unrelated normal Korean individuals. As a result, only one allele system, the presence of the MboI 192 site, was detected in the Korean." @default.
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- W1995191837 date "2000-09-01" @default.
- W1995191837 modified "2023-10-18" @default.
- W1995191837 title "One-allele system in the Korean for MboI-RFLP in exon 1 of the human tyrosinase (TYR) gene" @default.
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- W1995191837 doi "https://doi.org/10.1016/s0923-1811(00)00075-x" @default.
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