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Article

Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing.

Journal of translational medicine - 17 Jun 2014

Li Zongzhe, Huang Jin, Zhao Jinzhao, Chen Chen, Wang Hong, Ding Hu, Wang Dao Wu, Wang Dao Wen

Abstract excerpt

BACKGROUND: Rapidly determining the complex genetic basis of Hypertrophic cardiomyopathy (HCM) is vital to better understanding and optimally managing this common polygenetic cardiovascular disease. METHODS: A rapid custom Ion-amplicon-resequencing assay, covering 30 commonly affected genes of HCM, was developed and validated in 120 unrelated patients with HCM to facilitate genetic diagnosis of this disease. With...

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Cardiomyopathy, Hypertrophic
Molecular Diagnostic Techniques
Mutation
Sequence Analysis, DNA

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24938736
DOI: 10.1186/1479-5876-12-173
PMCID: PMC4072843

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