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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: de Brouwer, Arjan P.M., van Bokhoven, Hans, Nabuurs, Sander B., Arts, Willem Frans, Christodoulou, John, Duley, John
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
Assuntos:
Review
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados