Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionCLINICAL PERSPECTIVE

Robert Hastings, Carin P. De Villiers, Charlotte Hooper, Liz Ormondroyd, Alistair Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J. L. Knight, Jenny C. Taylor, Kate L. Thomson, Linda Arnold, Spyros Chatziefthimiou, Petr Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins & Katja Gehmlich
Circulation / Cardiovascular genetics 9(5), 426 - 435(2016). doi:10.1161/CIRCGENETICS.116.001431
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