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Chemical chaperone rescue of mutant human cystathionine β-synthase

Missense mutations in the cystathionine beta-synthase (CBS) gene, such as I278T, are responsible for CBS deficiency, the most common inherited disorder in sulfur metabolism. Expression of human mutant CBS proteins in Saccharomyces cerevisiae reveals that most disease causing mutations severely inhib...

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Detalles Bibliográficos
Autores principales: Singh, Laishram R., Chen, Xulin, Kožich, Viktor, Kruger, Warren D.
Formato: Texto
Lenguaje:English
Publicado: Academic Press 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2040066/
https://www.ncbi.nlm.nih.gov/pubmed/17540596
http://dx.doi.org/10.1016/j.ymgme.2007.04.011