Loading...
Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (CBS) reveal effects on CBS activity but not stability
Mutations in the cystathionine β-synthase (CBS) gene are the cause of classical homocystinuria, the most common inborn error in sulfur metabolism. The p.G307S mutation is the most frequent cause of CBS deficiency in Ireland, which has the highest prevalence of CBS deficiency in Europe. Individuals h...
Na minha lista:
| Udgivet i: | J Biol Chem |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society for Biochemistry and Molecular Biology
2018
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6130948/ https://ncbi.nlm.nih.gov/pubmed/30030379 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.002164 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|