A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype.
Matsunaga, J
A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. [electronic resource] - Dermatology (Basel, Switzerland) 1999 - 124-9 p. digital
Publication Type: Case Reports; Journal Article
1018-8665
10.1159/000018218 doi
Albinism, Oculocutaneous--genetics
Alternative Splicing--genetics
DNA Mutational Analysis
Female
Genetic Testing
Genotype
Heterozygote
Humans
Infant
Japan
Melanins--deficiency
Monophenol Monooxygenase--genetics
Mutation
Phenotype
Pigmentation--genetics
Sequence Deletion
A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. [electronic resource] - Dermatology (Basel, Switzerland) 1999 - 124-9 p. digital
Publication Type: Case Reports; Journal Article
1018-8665
10.1159/000018218 doi
Albinism, Oculocutaneous--genetics
Alternative Splicing--genetics
DNA Mutational Analysis
Female
Genetic Testing
Genotype
Heterozygote
Humans
Infant
Japan
Melanins--deficiency
Monophenol Monooxygenase--genetics
Mutation
Phenotype
Pigmentation--genetics
Sequence Deletion