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Coupling between protein stability and catalytic activity determines pathogenicity of G6PD variants
G6PD deficiency, an enzymopathy affecting 7% of the world population, is caused by over 160 identified amino acid variants in glucose-6-phosphate dehydrogenase (G6PD). The clinical presentation of G6PD deficiency is diverse, likely due to the broad distribution of variants across the protein and the...
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| Wydane w: | Cell Rep |
|---|---|
| Główni autorzy: | , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
2017
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5396575/ https://ncbi.nlm.nih.gov/pubmed/28297664 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2017.02.048 |
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