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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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| Publicado no: | JCI Insight |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2020
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| Assuntos: | |
| 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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