Article
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
The Journal of clinical investigation - 1 Mar 1991
Giebel L B, Tripathi R K, King R A, Spritz R A
Abstract excerpt
Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln). This substitution results in a tyrosinase polypeptide...
Topics
- Adult
- Albinism, Oculocutaneous
- Amino Acid Sequence
- Base Sequence
- Female
- Genes
- Humans
- Molecular Sequence Data
- Monophenol Monooxygenase
- Mutation
- Pedigree