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Báo cáo khoa học: Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation

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Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM)are the most common hereditary cardiac conditions. Both are frequentcauses of sudden death and are often associated with an adverse diseasecourse.Alpha-cardiac actinis one of the disease genes where different mis-sense mutations have been found to cause either HCM or DCM. We havetested the hypothesis that the protein-folding pathway plays a role in dis-ease development for two actin variants associated with DCM and six asso-ciated with HCM....
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Báo cáo khoa học: Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation

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