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Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?

DNA and cell biology - 1 Mar 2021

Januel Louis, Chanavat Valérie, Rollat-Farnier Pierre-Antoine, Bardel Claire, Nony Severine, Millat Gilles, Janin Alexandre

Abstract excerpt

Dilated cardiomyopathy (DCM) is the most common form of cardiomyopathy and one of the most common causes of heart failure. TTN-truncating variants represent the most common cause of DCM. Similarly, among other prevalent DCM-causing genes, truncating variants were also frequently detected in BAG3, DSP, FLNC, and LMNA. For these four genes, the current study aims to determine the prevalence of deep intronic...

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PMID: 33493017
DOI: 10.1089/dna.2020.6305

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