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Dokumenttyp:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Article
Autor(en):
Watanabe, H; Koopmann, TT; Le Scouarnec, S; Yang, T; Ingram, CR; Schott, JJ; Demolombe, S; Probst, V; Anselme, F; Escande, D; Wiesfeld, AC; Pfeufer, A; Kääb, S; Wichmann, HE; Hasdemir, C; Aizawa, Y; Wilde, AA; Roden, DM; Bezzina, CR
Titel:
Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
Abstract:
Brugada syndrome is a genetic disease associated with sudden cardiac death that is characterized by ventricular fibrillation and right precordial ST segment elevation on ECG. Loss-of-function mutations in SCN5A, which encodes the predominant cardiac sodium channel alpha subunit NaV1.5, can cause Brugada syndrome and cardiac conduction disease. However, SCN5A mutations are not detected in the majority of patients with these syndromes, suggesting that other genes can cause or modify presentation o...    »
Zeitschriftentitel:
J Clin Invest
Jahr:
2008
Band / Volume:
118
Heft / Issue:
6
Seitenangaben Beitrag:
2260-8
Sprache:
eng
Volltext / DOI:
doi:10.1172/JCI33891
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/18464934
Print-ISSN:
0021-9738
TUM Einrichtung:
Institut für Humangenetik
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