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International Journal of Legal Medicine

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09.09.2016 | Short Communication

Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs

verfasst von: Edelmann J., Dobosz T., Sobieszczanska M., Kawecka-Negrusz M., Dreßler J., Nastainczyk-Wulf M.

Erschienen in: International Journal of Legal Medicine | Ausgabe 2/2017

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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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Titel: Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs
verfasst von: Edelmann J.
Dobosz T.
Sobieszczanska M.
Kawecka-Negrusz M.
Dreßler J.
Nastainczyk-Wulf M.
Publikationsdatum: 09.09.2016
Verlag: Springer Berlin Heidelberg
Erschienen in: International Journal of Legal Medicine / Ausgabe 2/2017
Print ISSN: 0937-9827
Elektronische ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-016-1446-9

Springer Medizin

Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs

Abstract

Neu im Fachgebiet Rechtsmedizin

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Springer Medizin

Abstract

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