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Correction of Cystathionine β-synthase Deficiency in Mice by Treatment with Proteasome Inhibitors

Cystathionine beta-synthase (CBS) deficiency is an inborn error of metabolism characterized by extremely elevated levels of plasma total homocysteine. The vast majority of CBS-deficient patients have missense mutations located in the CBS gene that result in the production of either misfolded or unst...

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Detalhes bibliográficos
Main Authors: Gupta, Sapna, Wang, Liqun, Anderl, Janet, Slifker, Michael J., Kirk, Christopher, Kruger, Warren D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3941476/
https://ncbi.nlm.nih.gov/pubmed/23592311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22335
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