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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Singh, Laishram R., Chen, Xulin, Kožich, Viktor, Kruger, Warren D.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Academic Press 2007
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2040066/
https://ncbi.nlm.nih.gov/pubmed/17540596
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2007.04.011
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