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

Jenewein, Tina (2017)
Characterization of sequence variants in the cardiac ion channel genes KCNH2 and SCN5A.
Technische Universität Darmstadt
Ph.D. Thesis, Primary publication

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.

Item Type: Ph.D. Thesis
Erschienen: 2017
Creators: Jenewein, Tina
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
Refereed: 11 August 2017
URL / URN: http://tuprints.ulb.tu-darmstadt.de/6793
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.

Alternative Abstract:
Alternative abstract Language

Die vorliegende Arbeit beschreibt die Identifizierung und Charakterisierung von Sequenzvarianten in den kardialen Ionenkanalgenen KCNH2 und SCN5A. Die Identifizierung von Sequenzvarianten erfolgte bei am plötzlichen Herztod verstorbenen Personen, bei Patienten mit Ionenkanalerkrankungen und deren Familienangehörigen. Die Ergebnisse legen nahe, dass eine genetische Variante nicht immer einen klinischen Phänotyp hervorrufen muss und es außerdem zusätzliche genetische Modifikationen geben kann, welche die klinische Ausprägung einer Erkrankung beeinflussen.

German
URN: urn:nbn:de:tuda-tuprints-67932
Classification DDC: 500 Science and mathematics > 500 Science
500 Science and mathematics > 570 Life sciences, biology
Divisions: 10 Department of Biology
10 Department of Biology > Plant Membrane Biophyscis (20.12.23 renamed in Biology of Algae and Protozoa)
Date Deposited: 17 Sep 2017 19:55
Last Modified: 17 Sep 2017 19:55
PPN:
Referees: Thiel, Prof. Dr. Gerhard ; Galuske, Prof. Dr. Ralf ; Kauferstein, PD Dr. Silke
Refereed / Verteidigung / mdl. Prüfung: 11 August 2017
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