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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...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Academic Press
2007
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| 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 |