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.
Circulation. 2007 Jan 30;115(4):432-41. doi: 10.1161/CIRCULATIONAHA.106.656512. Epub 2007 Jan 22.
PMID:17242276
A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation.
Huq AJ, Pertile MD, Davis AM, Landon H, James PA, Kline CF, Vohra J, Mohler PJ, Delatycki MB.