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The c.797 G>A (p.R266K) Cystathionine β-Synthase Mutation Causes Homocystinuria by Affecting Protein Stability
Mutations in the cystathionine beta-synthase (CBS) gene are the cause of classical homocystinuria, the most common inborn error in sulfur metabolism. The c.797 G>A (p.R266K) mutation in CBS was originally described in several Norwegian pyridoxine responsive CBS deficient patients, and heterologou...
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| I publikationen: | Hum Mutat |
|---|---|
| Huvudupphovsmän: | , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2017
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5525156/ https://ncbi.nlm.nih.gov/pubmed/28488385 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23240 |
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