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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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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2013
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| Schlagworte: | |
| Online Zugang: | 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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