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

Matsunaga, J

R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. [electronic resource] - Journal of dermatological science Nov 1996 - 134-9 p. digital

Publication Type: Case Reports; Journal Article

0923-1811

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


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