Jenewein, Tina (2017):
Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A.
Darmstadt, Technische Universität,
[Ph.D. Thesis]
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Diss_TinaJenewein_final_2.pdf - Accepted Version Available under only the rights of use according to UrhG. Download (3MB) | Preview |
Item Type: | Ph.D. Thesis | ||||
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Title: | Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A | ||||
Language: | English | ||||
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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Place of Publication: | Darmstadt | ||||
Classification DDC: | 500 Naturwissenschaften und Mathematik > 500 Naturwissenschaften 500 Naturwissenschaften und Mathematik > 570 Biowissenschaften, Biologie |
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Divisions: | 10 Department of Biology 10 Department of Biology > Plant Membrane Biophysics |
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Date Deposited: | 13 Sep 2017 13:27 | ||||
Last Modified: | 13 Sep 2017 13:27 | ||||
URN: | urn:nbn:de:tuda-tuprints-67932 | ||||
Referees: | Thiel, Prof. Dr. Gerhard and Galuske, Prof. Dr. Ralf and Kauferstein, PD Dr. Silke | ||||
Refereed: | 11 August 2017 | ||||
URI: | https://tuprints.ulb.tu-darmstadt.de/id/eprint/6793 | ||||
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