ArticleInternational journal of legal medicine2017
Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs.
Article in International journal of legal medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 3 citations in OpenAlex.
- Electrocardiogram characteristics and possible associated factors in healthy Japanese children: the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study.BMC pediatrics · 2025Article
- Long QT syndrome - Bench to bedside.Heart rhythm O2 · 2021Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
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Abstract
Congenital long QT-syndrome (LQTS) is an inherited cardiac arrhythmia, which is characterized by a prolonged QT interval which predisposes to sudden cardiac death due to ventricular arrhythmias. The altered functions are based on different mutations in LQTS-associated genes. In this study, we performed a mutation analysis for the detection of 125 LQTS-associated single nucleotide polymorphisms (SNPs) focused on the genes KCNQ1, KCNH2, and SCN5A by using the SNaPshot multiplex minisequencing technique. Furthermore, we investigated 152 autopsy-negative cases from younger adults and infants, as well as samples from patients with clinically suspicion for LQTS, in which we found two types of variations.
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