Jenewein, Tina (2017)
Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A.
Technische Universität Darmstadt
Ph.D. Thesis, Primary publication
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Diss_TinaJenewein_final_2.pdf - Accepted Version Copyright Information: In Copyright. Download (3MB) | Preview |
| Item Type: | Ph.D. Thesis | ||||
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| Type of entry: | Primary publication | ||||
| Title: | Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A | ||||
| Language: | English | ||||
| Referees: | Thiel, Prof. Dr. Gerhard ; Galuske, Prof. Dr. Ralf ; Kauferstein, PD Dr. Silke | ||||
| Date: | 5 May 2017 | ||||
| Place of Publication: | Darmstadt | ||||
| Date of oral examination: | 11 August 2017 | ||||
| Abstract: | 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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| URN: | urn:nbn:de:tuda-tuprints-67932 | ||||
| Classification DDC: | 500 Science and mathematics > 500 Science 500 Science and mathematics > 570 Life sciences, biology |
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| Divisions: | 10 Department of Biology 10 Department of Biology > Plant Membrane Biophyscis (20.12.23 renamed in Biology of Algae and Protozoa) |
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| Date Deposited: | 13 Sep 2017 13:27 | ||||
| Last Modified: | 13 Sep 2017 13:27 | ||||
| URI: | https://tuprints.ulb.tu-darmstadt.de/id/eprint/6793 | ||||
| PPN: | 416533779 | ||||
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