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Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome
(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the ABCC9 and KCNJ8 genes, which encode ATP-sensitive K(+) (KATP) channel subunits SUR2 and Kir6.1, respectively. Most CS patients have mutations in SUR2, the major component of skeletal muscle KATP, but the conseque...
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| Izdano u: | Cells |
|---|---|
| Glavni autori: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
MDPI
2021
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8307364/ https://ncbi.nlm.nih.gov/pubmed/34359961 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cells10071791 |
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