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Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7
Hypertrophic cardiomyopathy (HCM) is a genetic disease characterised by increased left ventricle (LV) wall thickness caused by mutations in sarcomeric genes. Finding a causal mutation can help to better assess the proband’s risk, as it allows the presence of the mutation to be evaluated in relatives...
Autores principales: | Antoniutti, Guido, Caimi-Martinez, Fiama Giuliana, Álvarez-Rubio, Jorge, Morlanes-Gracia, Paula, Pons-Llinares, Jaume, Rodríguez-Picón, Blanca, Fortuny-Frau, Elena, Torres-Juan, Laura, Heine-Suner, Damian, Ripoll-Vera, Tomas |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872101/ https://www.ncbi.nlm.nih.gov/pubmed/35205365 http://dx.doi.org/10.3390/genes13020320 |
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