R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism.

doi:10.1016/s0923-1811(96)00519-1

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Article

R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism.

Journal of dermatological science - 1 Nov 1996

Matsunaga J, Dakeishi M, Shimizu H, Tomita Y

Abstract excerpt

We examined the tyrosinase gene of two Japanese patients with tyrosinase-negative oculocutaneous albinism by allele-specific amplification analysis on two known point mutations in Japanese, and the results indicated that they were compound heterozygouts, namely, one allele of the tyrosinase gene...

Topics

Albinism, Oculocutaneous
Alleles
Amino Acid Sequence
Base Sequence
Cloning, Molecular
DNA Primers
Exons
Female
Genotype
Heterozygote
Humans
Japan
Male
Monophenol Monooxygenase
Point Mutation

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