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.
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.
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.
| 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 |
| Scopus Subject Areas: | Health Sciences > Cardiology and Cardiovascular Medicine |
| Language: | English |
| Date: | 2011 |
| Deposited On: | 06 Jan 2012 15:57 |
| Last Modified: | 06 Nov 2023 02:40 |
| 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 |
Templin, C