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Document type:
journal article 
Author(s):
Moretti, A; Bellin, M; Welling, A; Jung, CB; Lam, JT; Bott-Flügel, L; Dorn, T; Goedel, A; Höhnke, C; Hofmann, F; Seyfarth, M; Sinnecker, D; Schömig, A; Laugwitz, KL 
Title:
Patient-specific induced pluripotent stem-cell models for long-QT syndrome. 
Abstract:
Long-QT syndromes are heritable diseases associated with prolongation of the QT interval on an electrocardiogram and a high risk of sudden cardiac death due to ventricular tachyarrhythmia. In long-QT syndrome type 1, mutations occur in the KCNQ1 gene, which encodes the repolarizing potassium channel mediating the delayed rectifier I(Ks) current.We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene. We obtained de...    »
 
Journal title abbreviation:
N Engl J Med 
Year:
2010 
Journal volume:
363 
Journal issue:
15 
Pages contribution:
1397-409 
Language:
eng 
Print-ISSN:
0028-4793 
TUM Institution:
I. Medizinische Klinik und Poliklinik; r Pharmakologie und Toxikologie; r Plastische Chirurgie und Handchirurgie