Jenewein, Tina (2017)
Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A.
Technische Universität Darmstadt
Dissertation, Erstveröffentlichung
Kurzbeschreibung (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.
| Typ des Eintrags: | Dissertation | ||||
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| Erschienen: | 2017 | ||||
| Autor(en): | Jenewein, Tina | ||||
| Art des Eintrags: | Erstveröffentlichung | ||||
| Titel: | Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A | ||||
| Sprache: | Englisch | ||||
| Referenten: | Thiel, Prof. Dr. Gerhard ; Galuske, Prof. Dr. Ralf ; Kauferstein, PD Dr. Silke | ||||
| Publikationsjahr: | 5 Mai 2017 | ||||
| Ort: | Darmstadt | ||||
| Datum der mündlichen Prüfung: | 11 August 2017 | ||||
| URL / URN: | http://tuprints.ulb.tu-darmstadt.de/6793 | ||||
| Kurzbeschreibung (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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| Alternatives oder übersetztes Abstract: |
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| URN: | urn:nbn:de:tuda-tuprints-67932 | ||||
| Sachgruppe der Dewey Dezimalklassifikatin (DDC): | 500 Naturwissenschaften und Mathematik > 500 Naturwissenschaften 500 Naturwissenschaften und Mathematik > 570 Biowissenschaften, Biologie |
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| Fachbereich(e)/-gebiet(e): | 10 Fachbereich Biologie 10 Fachbereich Biologie > Plant Membrane Biophyscis (am 20.12.23 umbenannt in Biologie der Algen und Protozoen) |
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| Hinterlegungsdatum: | 17 Sep 2017 19:55 | ||||
| Letzte Änderung: | 17 Sep 2017 19:55 | ||||
| PPN: | |||||
| Referenten: | Thiel, Prof. Dr. Gerhard ; Galuske, Prof. Dr. Ralf ; Kauferstein, PD Dr. Silke | ||||
| Datum der mündlichen Prüfung / Verteidigung / mdl. Prüfung: | 11 August 2017 | ||||
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| Suche nach Titel in: | TUfind oder in Google | ||||
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