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...

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Detalhes bibliográficos
Publicado no:Open Heart
Main Authors: Captur, Gabriella, Arbustini, Eloisa, Syrris, Petros, Radenkovic, Dina, O'Brien, Ben, Mckenna, William J, Moon, James C
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
Assuntos:
Heart Failure and Cardiomyopathies
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6203068/
https://ncbi.nlm.nih.gov/pubmed/30402260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/openhrt-2018-000915
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