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Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes.
Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM. Mohler PJ, et al. Circulation. 2007 Jan 30;115(4):432-41. doi: 10.1161/CIRCULATIONAHA.106.656512. Epub 2007 Jan 22. Circulation. 2007. PMID: 17242276
Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease.
Le Scouarnec S, Bhasin N, Vieyres C, Hund TJ, Cunha SR, Koval O, Marionneau C, Chen B, Wu Y, Demolombe S, Song LS, Le Marec H, Probst V, Schott JJ, Anderson ME, Mohler PJ. Le Scouarnec S, et al. Proc Natl Acad Sci U S A. 2008 Oct 7;105(40):15617-22. doi: 10.1073/pnas.0805500105. Epub 2008 Oct 1. Proc Natl Acad Sci U S A. 2008. PMID: 18832177 Free PMC article.