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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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Detalles Bibliográficos
Autores principales:	Kožich, Viktor, Sokolová, Jitka, Klatovská, Veronika, Krijt, Jakub, Janošík, Miroslav, Jelínek, Karel, Kraus, Jan P, Cooper, David N
Formato:	Texto
Lenguaje:	English
Publicado:	Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2966864/ https://www.ncbi.nlm.nih.gov/pubmed/20506325 http://dx.doi.org/10.1002/humu.21273

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