Benutzer: Gast  Login
Dokumenttyp:
journal 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:
Seitenangaben Beitrag:
2260-8 
Sprache:
eng 
Print-ISSN:
0021-9738 
TUM Einrichtung:
r Humangenetik