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Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (K(ATP)) channel subunits, the most common mutations being SUR2[R1154Q] and SUR2[R1154W], carried by approximately 30% of patients. We used CRISPR/Cas...
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| Опубликовано в: : | JCI Insight |
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| Главные авторы: | , , , , , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Society for Clinical Investigation
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8021106/ https://ncbi.nlm.nih.gov/pubmed/33529173 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.145934 |
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