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Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)


Templin, C; Ghadri, J R; Rougier, J S; Baumer, A; Kaplan, V; Albesa, M; Sticht, H; Rauch, A; Puleo, C; Hu, D; Barajas-Martinez, H; Antzelevitch, C; Lüscher, T F; Abriel, H; Duru, F (2011). Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9):1077-1088.

Abstract

In the present study, we report the first pathogenic mutation in the CACNA2D1 gene in humans, which causes a new variant of SQTS. It remains to be determined whether mutations in this gene lead to other manifestations of the J-wave syndrome.

Abstract

In the present study, we report the first pathogenic mutation in the CACNA2D1 gene in humans, which causes a new variant of SQTS. It remains to be determined whether mutations in this gene lead to other manifestations of the J-wave syndrome.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic and Policlinic for Internal Medicine
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:2011
Deposited On:06 Jan 2012 15:57
Last Modified:20 Sep 2018 07:02
Publisher:Oxford University Press
ISSN:0195-668X
OA Status:Green
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.1093/eurheartj/ehr076
PubMed ID:21383000

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