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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| Format: | Others |
| Language: | en |
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2017
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| 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) |
| Summary: | 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. |
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