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...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Circ Cardiovasc Genet
Päätekijät: Boczek, Nicole J., Gomez-Hurtado, Nieves, Ye, Dan, Calvert, Melissa L., Tester, David J., Kryshtal, Dmytro, Hwang, Hyun Seok, Johnson, Christopher N., Chazin, Walter J., Loporcaro, Christina G., Shah, Maully, Papez, Andrew L., Lau, Yung R., Kanter, Ronald, Knollmann, Bjorn C., Ackerman, Michael J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2016
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Article
Linkit: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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