Article

Truncated titin is integrated into the human dilated cardiomyopathic sarcomere

2023-02-12

Abstract excerpt

Heterozygous (HET) truncating mutations in the TTN gene (TTNtv) encoding the giant titin protein are the most common genetic cause of dilated cardiomyopathy (DCM). However, the molecular mechanisms by which TTNtv mutations induce DCM are controversial. Here we investigated 127 clinically identified DCM human cardiac samples with next-generation sequencing (NGS), high-resolution gel electrophoresis, Western blot an...

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Literature Corpus work: 0201aac2-a6aa-594b-aeaf-c91d23795f61
DOI: 10.1101/2023.02.08.527678

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