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Article

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

BMC medical genetics - 19 Mar 2012

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

Abstract excerpt

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. METHODOLOGY: In this report, we evaluated High Resolution Melting (HRM) robustness, regarding HCM genetic testing, by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22429680
DOI: 10.1186/1471-2350-13-17
PMCID: PMC3359199

Genes

CSRP3
MYBPC3
MYH6
MYH7
MYL2
TNNI3
TNNT2

Provenance

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