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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...
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Blackwell Publishing Ltd
2008
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2630375/ https://ncbi.nlm.nih.gov/pubmed/18454451 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20773 |
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