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Genotype-Phenotype Correlations in Lesch-Nyhan Disease: MOVING BEYOND THE GENE
Lesch-Nyhan disease and its attenuated variants are caused by mutations in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase. The mutations are heterogeneous, with more than 400 different mutations already documented. Prior efforts to correlate...
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| Главные авторы: | , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Society for Biochemistry and Molecular Biology
2012
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3270957/ https://ncbi.nlm.nih.gov/pubmed/22157001 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.317701 |
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