Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A

Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A

The present thesis describes the identification and characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A. The variants were found in sudden cardiac death victims, in patients with ion channel diseases and in their family members. The results support the growing awar...

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Main Author: Jenewein, Tina
Format: Others
Language:en
Published: 2017
Online Access:http://tuprints.ulb.tu-darmstadt.de/6793/1/Diss_TinaJenewein_final_2.pdf
Jenewein, Tina <http://tuprints.ulb.tu-darmstadt.de/view/person/Jenewein=3ATina=3A=3A.html> : Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A. Technische Universität, Darmstadt [Ph.D. Thesis], (2017)
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spelling ndltd-tu-darmstadt.de-oai-tuprints.ulb.tu-darmstadt.de-67932017-09-14T04:39:53Z http://tuprints.ulb.tu-darmstadt.de/6793/ Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A Jenewein, Tina The present thesis describes the identification and characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A. The variants were found in sudden cardiac death victims, in patients with ion channel diseases and in their family members. The results support the growing awareness that carriership of a single mutation often fails to predict the clinical phenotype and that additional genetic modifications may influence the clinical manifestation of the disease. 2017-05-05 Ph.D. Thesis NonPeerReviewed text only the rights of use according to UrhG http://tuprints.ulb.tu-darmstadt.de/6793/1/Diss_TinaJenewein_final_2.pdf Jenewein, Tina <http://tuprints.ulb.tu-darmstadt.de/view/person/Jenewein=3ATina=3A=3A.html> : Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A. Technische Universität, Darmstadt [Ph.D. Thesis], (2017) en info:eu-repo/semantics/doctoralThesis info:eu-repo/semantics/openAccess
collection NDLTD
language en
format Others
sources NDLTD
description The present thesis describes the identification and characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A. The variants were found in sudden cardiac death victims, in patients with ion channel diseases and in their family members. The results support the growing awareness that carriership of a single mutation often fails to predict the clinical phenotype and that additional genetic modifications may influence the clinical manifestation of the disease.
author Jenewein, Tina
spellingShingle Jenewein, Tina
Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A
author_facet Jenewein, Tina
author_sort Jenewein, Tina
title Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A
title_short Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A
title_full Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A
title_fullStr Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A
title_full_unstemmed Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A
title_sort characterization of sequence variants in the cardiac ion channel genes kcnh2 and scn5a
publishDate 2017
url http://tuprints.ulb.tu-darmstadt.de/6793/1/Diss_TinaJenewein_final_2.pdf
Jenewein, Tina <http://tuprints.ulb.tu-darmstadt.de/view/person/Jenewein=3ATina=3A=3A.html> : Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A. Technische Universität, Darmstadt [Ph.D. Thesis], (2017)
work_keys_str_mv AT jeneweintina characterizationofsequencevariantsinthecardiacionchannelgeneskcnh2andscn5a
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