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Scientific article
English

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

Published inJournal of medical genetics, vol. 48, no. 8, p. 572-576
Publication date2011
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/genetics
  • Genetic Variation
  • Heterozygote
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide/genetics
  • Professional Practice
  • Sequence Analysis, DNA/methods
Citation (ISO format)
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. 572–576. doi: 10.1136/jmg.2010.083345
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Article (Published version)
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Identifiers
ISSN of the journal0022-2593
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