A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
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 oculocut...
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| 發表在: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
National Academy of Sciences
1990
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC53878/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1970634/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.9.3255 |
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