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Molecular basis of glutathione synthetase deficiency and a rare gene permutation event.
Glutathione synthetase (GS) catalyses the production of glutathione from gamma-glutamylcysteine and glycine in an ATP-dependent manner. Malfunctioning of GS results in disorders including metabolic acidosis, 5-oxoprolinuria, neurological dysfunction, haemolytic anaemia and in some cases is probably...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
1999
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1171401/ https://ncbi.nlm.nih.gov/pubmed/10369661 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/emboj/18.12.3204 |
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