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Cystathionine β-Synthase Mutations: Effect of Mutation Topology on Folding and Activity
Misfolding of mutant enzymes may play an important role in the pathogenesis of cystathionine β-synthase (CBS) deficiency. We examined properties of a series of 27 mutant variants, which together represent 70% of known alleles observed in patients with homocystinuria due to CBS deficiency. The median...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley Subscription Services, Inc., A Wiley Company
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2966864/ https://ncbi.nlm.nih.gov/pubmed/20506325 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21273 |
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