| Autor: |
Giebel, L B, Strunk, K M, King, R A, Hanifin, J M, Spritz, R A |
| Zdroj: |
Proceedings of the National Academy of Sciences of the United States of America; May 1990, Vol. 87 Issue: 9 p3255-3258, 4p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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