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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455123/
https://www.ncbi.nlm.nih.gov/pubmed/32814711
http://dx.doi.org/10.1172/jci.insight.138780

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