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, 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 D. Chatziefthimiou, Petr V. Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins, Katja Gehmlich*

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

60 Citations (Scopus)
246 Downloads (Pure)

Fingerprint

Dive into the research topics of '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'. Together they form a unique fingerprint.

Biochemistry, Genetics and Molecular Biology