Abstract
We have identified a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline → leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. This mutation thus appears to be a frequent cause of tyrosinase-negative oculocutaneous albinism.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 3255-3258 |
| Number of pages | 4 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Volume | 87 |
| Issue number | 9 |
| DOIs | |
| State | Published - May 1990 |
Keywords
- Albino
- Melanin
- Pigment disorders
ASJC Scopus subject areas
- General
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Cite this
Giebel, L. B., Strunk, K. M., King, R. A., Hanifin, J. M., & Spritz, R. A. (1990). A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. Proceedings of the National Academy of Sciences of the United States of America, 87(9), 3255-3258. https://doi.org/10.1073/pnas.87.9.3255