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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: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | 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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