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The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca(2+) handling
Mutations in the Lamin A/C gene (LMNA), which encodes A‐type nuclear Lamins, represent the most frequent genetic cause of dilated cardiomyopathy (DCM). This study is focused on a LMNA nonsense mutation (R321X) identified in several members of an Italian family that produces a truncated protein isofo...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082401/ https://www.ncbi.nlm.nih.gov/pubmed/27421120 http://dx.doi.org/10.1111/jcmm.12926 |