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Title:

Patient-specific induced pluripotent stem-cell models for long-QT syndrome.

Document type:
Journal Article; Research Support, Non-U.S. Gov't; 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
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
Fulltext / DOI:
doi:10.1056/NEJMoa0908679
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/20660394
Print-ISSN:
0028-4793
TUM Institution:
I. Medizinische Klinik und Poliklinik (Kardiologie); Institut für Pharmakologie und Toxikologie; Lehrstuhl für Plastische Chirurgie und Handchirurgie (Prof. Machens)
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