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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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Dettagli Bibliografici
Autori principali: de Brouwer, Arjan P.M., van Bokhoven, Hans, Nabuurs, Sander B., Arts, Willem Frans, Christodoulou, John, Duley, John
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2010
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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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