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Computational analysis of missense mutations causing Snyder-Robinson Syndrome

The Snyder-Robinson syndrome is caused by missense mutations in the spermine sythase gene that encodes a protein (SMS) of 529 amino acids. Here we investigate, in silico, the molecular effect of three missense mutations, c.267G>A (p.G56S), c.496T>G (p.V132G) and c.550T>C (p.I150T) in SMS th...

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Main Authors: Zhang, Zhe, Teng, Shaolei, Wang, Liangjiang, Schwartz, Charles E., Alexov, Emil
格式: Artigo
語言:Inglês
出版: 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2932761/
https://ncbi.nlm.nih.gov/pubmed/20556796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21310
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