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Title

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

Authors
Melacini, Paola
Iliceto, Sabino
Perrot, Andreas
Ozcelik, Cemil
Jeanrenaud, Xavier
Rieubland, Claudine
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Published in Journal of Medical Genetics. 2011, vol. 48, no. 8, p. 572-6
Abstract Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease (1/500) and the most common cause of sudden cardiac death in young people. Pathogenic mutation detection of HCM is having a growing impact on the medical management of patients and their families. However, the remarkable genetic and allelic heterogeneity makes molecular analysis by conventional methods very time-consuming, expensive and difficult to realise in a routine diagnostic molecular laboratory.
Keywords Cardiomyopathy, Hypertrophic/geneticsGenetic VariationHeterozygoteHumansOligonucleotide Array Sequence AnalysisPolymorphism, Single Nucleotide/geneticsProfessional PracticeSequence Analysis, DNA/methods
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PMID: 21239446
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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FOKSTUEN, Siv et al. Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. In: Journal of Medical Genetics, 2011, vol. 48, n° 8, p. 572-6. https://archive-ouverte.unige.ch/unige:34666

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Deposited on : 2014-03-07

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