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Cystathionine β-Synthase p.S466L Mutation Causes Hyperhomocysteinemia in Mice
Missense mutations in the cystathionine β-synthase (CBS) gene are the most common cause of clinical homocystinuria in humans. The p.S466L mutation was identified in a homocystinuric patient, but enzymatic studies with recombinant protein show this mutant to be highly active. To understand how this m...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2008
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2630375/ https://www.ncbi.nlm.nih.gov/pubmed/18454451 http://dx.doi.org/10.1002/humu.20773 |