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Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature
OBJECTIVE: Two LMNA genotype–phenotype cardiac correlations are reported: first, that cardiac involvement in multisystem laminopathies prevails with mutations upstream of the nuclear localisation signal (NLS); second, that worse outcomes occur with non-missense (compared with missense) mutations. We...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BMJ Publishing Group
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203068/ https://www.ncbi.nlm.nih.gov/pubmed/30402260 http://dx.doi.org/10.1136/openhrt-2018-000915 |