Llwytho...
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin (CaM) Variants in Long QT Syndrome (LQTS) and Functional Characterization of a Novel LQTS-Associated CaM Missense Variant, E141G
BACKGROUND: Calmodulin (CaM) is encoded by three genes, CALM1, CALM2, and CALM3, all of which harbor pathogenic variants linked to long QT syndrome (LQTS) with early and severe expressivity. These LQTS-causative variants reduce CaM affinity to Ca(2+) and alter the properties of the cardiac L-type ca...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Circ Cardiovasc Genet |
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| Prif Awduron: | , , , , , , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2016
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4907364/ https://ncbi.nlm.nih.gov/pubmed/26969752 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.115.001323 |
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