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Homozygous G650del nexilin variant causes cardiomyopathy in mice

Nexilin (NEXN) was recently identified as a component of the junctional membrane complex required for development and maintenance of cardiac T-tubules. Loss of Nexn in mice leads to a rapidly progressive dilated cardiomyopathy (DCM) and premature death. A 3 bp deletion (1948–1950del) leading to loss...

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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: Liu, Canzhao, Spinozzi, Simone, Feng, Wei, Chen, Ze’e, Zhang, Lunfeng, Zhu, Siting, Wu, Tongbin, Fang, Xi, Ouyang, Kunfu, Evans, Sylvia M., Chen, Ju
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7455123/
https://ncbi.nlm.nih.gov/pubmed/32814711
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.138780
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