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Obscurin variants and inherited cardiomyopathies

5 May 2017

Abstract excerpt

The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular non-compaction (LVNC), have been frequently associated with mutations in sarcomeric proteins. In recent years, advances in DNA sequencing technology has allowed the study of the giant proteins of the sarcomere, such as titin and nebulin. Obscurin has been somewhat neglected in these studies,...

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PMID: 28510120
DOI: 10.1007/s12551-017-0264-8

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