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Article

Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.

Circulation journal : official journal of the Japanese Circulation Society - 1 Jan 2014

Gómez Juan, Reguero Julian R, Morís César, Martín María, Alvarez Victoria, Alonso Belén, Iglesias Sara, Coto Eliecer

Abstract excerpt

BACKGROUND: Mutations in at least 30 genes have been linked to hypertrophic cardiomyopathy (HCM). Due to the large size of the main HCM genes, Sanger sequencing is labor intensive and expensive. The purpose was to develop a next-generation sequencing (NGS) procedure for the main HCM genes. METHODS AND RESULTS: Multiplex amplification of the coding exons of MYH7,MYBPC3,TNNT2,TNNI3,ACTC1,TNNC1,MYL2,MYL3, and TPM1...

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Topics

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Share to Cardiomyopathy, Hypertrophic
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Mutagenesis, Insertional

Share to Nucleic Acid Amplification Techniques

Share to Sensitivity and Specificity

Share to Sequence Analysis, DNA

Share to Sequence Deletion

Source

Identifiers

PMID: 25342278
DOI: 10.1253/circj.cj-14-0628

Genes

ACTC1
MYBPC3
MYH7
MYL2
MYL3
TNNC1
TNNI3
TNNT2
TPM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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