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AssigneeMemorial University of Newfoundland
InventorsTerry-Lynn Young, Kathy Hodgkinson, Sean Connors, Patrick Parfrey, Annika Haywood, Nancy Merner, Vanessa French
Estimating the term…
Methods and compositions relating to diagnosing and treating cardiomyopathy and particularly relating to methods and compositions for diagnosing and treating arrhythmogenic right ventricular dysplasia/cardiomyophathy (ARVD/C) are described. Provided are methods for screening for, diagnosing or detecting a risk of developing arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) comprising detecting the presence of a transmembrane protein 43 (TMEM43) disease associated variant in a sample of a subject, wherein the presence of a TMEM43 disease variant is indicative that the subject has ARVD/C or an increased risk of developing ARVD/C compared to an individual having wild type TMEM43.
A composition comprising:
A microarray comprising a plurality of single stranded nucleic acid probes and a solid surface wherein the probes are fixed to the solid surface, wherein at least one of the plurality of probes comprises at least 17 contiguous nucleotides of SEQ ID NO:
A composition comprising at least one isolated deoxyribonucleic acid comprising at least 250 contiguous nucleotides of SEQ ID NO:
Dependencies are inferred from the claim text.