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Mutations in the Chinese hamster ovary cell GART gene of de novo purine synthesis

Mutations in several steps of de novo purine synthesis lead to human inborn errors of metabolism often characterized by mental retardation, hypotonia, sensorineural hearing loss, optic atrophy, and other features. In animals, the phosphoribosylglycinamide transformylase (GART) gene encodes a trifunc...

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Detalhes bibliográficos
Main Authors: Knox, Aaron J., Graham, Christine, Bleskan, John, Brodsky, Gary, Patterson, David
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2643067/
https://ncbi.nlm.nih.gov/pubmed/19007868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2008.10.007
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