Article

A functional investigation of mutations associated with hypertrophic and dilated cardiomyopathy

2008-01-01

Abstract excerpt

The mutations E361G and E99K in the cardiac actin gene cause dilated and hypertrophic cardiomyopathy respectively. Transgenic mouse models have been developed that over-express these mutations in their hearts. Mutant protein was expressed at 50% of to tal actin. Thin filaments were reconstituted with mouse actin, human cardiac tropomyosin and troponin, and studied by in vitro motility assay. Phosphorylated E361G a...

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Literature Corpus work: 54688f8f-5af2-5431-a84b-68914a9f90ad
DOI: 10.25560/1353

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