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 Noncompaction
Robert Hastings, Katja Gehmlich(University College Hospital), Jenny C. Taylor(Centre for Human Genetics), Mathias Gautel(British Heart Foundation), Hugh Watkins(John Radcliffe Hospital), Kate Thomson, Andrea Ghisleni(IFOM), Linda Arnold(Arnold Ventures), Charlotte Hooper, Elizabeth Ormondroyd(Ormond (United States)), S.D. Chatziefthimiou, Alistair T. Pagnamenta(University College London), Elisabeth Ehler(King's College London), Silvia Salatino(Centre for Human Genetics), Samantha J.L. Knight(Centre for Human Genetics), Petr V. Konarev(Deutsches Elektronen-Synchrotron DESY), Matthias Wilmanns(Universität Hamburg), Carin P. de Villiers, Edward Blair(Nuffield Orthopaedic Centre), Stefano Lise
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