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High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort
BACKGROUND: Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. METH...
Autores principales: | Santos, Susana, Marques, Vanda, Pires, Marina, Silveira, Leonor, Oliveira, Helena, Lança, Vasco, Brito, Dulce, Madeira, Hugo, Esteves, J Fonseca, Freitas, António, Carreira, Isabel M, Gaspar, Isabel M, Monteiro, Carolino, Fernandes, Alexandra R |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359199/ https://www.ncbi.nlm.nih.gov/pubmed/22429680 http://dx.doi.org/10.1186/1471-2350-13-17 |
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