A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism
| العنوان: | A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism |
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| المؤلفون: | Jon M. Hanifin, Richard A. King, Richard A. Spritz, Lutz B. Giebel, Kathleen M. Strunk |
| المصدر: | Proceedings of the National Academy of Sciences. 87:3255-3258 |
| بيانات النشر: | Proceedings of the National Academy of Sciences, 1990. |
| سنة النشر: | 1990 |
| مصطلحات موضوعية: | Male, Albinism, Genetic Linkage, Tyrosinase, Molecular Sequence Data, Restriction Mapping, Biology, Gene mutation, Polymerase Chain Reaction, Melanin, medicine, Humans, Amino Acid Sequence, Allele, Codon, Genetics, Multidisciplinary, Base Sequence, Monophenol Monooxygenase, Point mutation, medicine.disease, Oculocutaneous albinism, Molecular biology, Pedigree, Genes, Haplotypes, Mutation, Mutation (genetic algorithm), Female, Oligonucleotide Probes, Catechol Oxidase, Polymorphism, Restriction Fragment Length, Research Article |
| الوصف: | 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. |
| تدمد: | 1091-6490 0027-8424 |
| DOI: | 10.1073/pnas.87.9.3255 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a97a17d743392aa6070f02249a24769a https://doi.org/10.1073/pnas.87.9.3255 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....a97a17d743392aa6070f02249a24769a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10916490 00278424 |
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| DOI: | 10.1073/pnas.87.9.3255 |