TY  - GEN
AU  - Matsunaga,J
AU  - Dakeishi-Hara,M
AU  - Tanita,M
AU  - Nindl,M
AU  - Nagata,Y
AU  - Nakamura,E
AU  - Miyamura,Y
AU  - Kikuchi,K
AU  - Furue,M
AU  - Tomita,Y
TI  - A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype
SN  - 1018-8665
PY  - 2000///0111
KW  - Albinism, Oculocutaneous
KW  - genetics
KW  - Alternative Splicing
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Testing
KW  - Genotype
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Japan
KW  - Melanins
KW  - deficiency
KW  - Monophenol Monooxygenase
KW  - Mutation
KW  - Phenotype
KW  - Pigmentation
KW  - Sequence Deletion
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1159/000018218
ER  -