One-allele system in the Korean for MboI-RFLP in exon 1 of the human tyrosinase (TYR) gene.

doi:10.1016/s0923-1811(00)00075-x

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Article

One-allele system in the Korean for MboI-RFLP in exon 1 of the human tyrosinase (TYR) gene.

Journal of dermatological science - 1 Sept 2000

Kim D K, Kang K H, Choi I J

Abstract excerpt

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...

Topics

Albinism, Oculocutaneous
Alleles
Exons
Gene Frequency
Humans
Korea
Monophenol Monooxygenase
Polymorphism, Restriction Fragment Length

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PMID: 10960773
DOI: 10.1016/s0923-1811(00)00075-x

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