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Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria
Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but the mutations responsible for pentosuria remained unknown. Pentosur...
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| Główni autorzy: | , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
National Academy of Sciences
2011
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3215002/ https://ncbi.nlm.nih.gov/pubmed/22042873 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1115888108 |
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