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Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation

α-Actinin-2 (ACTN2) is the only muscle isoform of α-actinin expressed in cardiac muscle. Mutations in this protein have been implicated in mild to moderate forms of hypertrophic cardiomyopathy (HCM). We have investigated the effects of two mutations identified from HCM patients, A119T and G111V, on...

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Detalhes bibliográficos
Publicado no:Biochem J
Main Authors: Haywood, Natalie J., Wolny, Marcin, Rogers, Brendan, Trinh, Chi H., Shuping, Yu, Edwards, Thomas A., Peckham, Michelle
Formato: Artigo
Idioma:Inglês
Publicado em: Portland Press Ltd. 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4980809/
https://ncbi.nlm.nih.gov/pubmed/27287556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BCJ20160421
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