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PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment
Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucleotides are central to cell function, being the building blocks of nucleic acids and serving as cofactors in cellular signaling and metabolism. With this in mind, it is remarkable that mutations in ph...
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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2010
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2850427/ https://ncbi.nlm.nih.gov/pubmed/20380929 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.02.024 |
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