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