Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2-Reference-Cited by-同舟云学术

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

Published:2014-03-07 Issue:1 Volume:15 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Christiansen Michael,Hedley Paula L,Theilade Juliane,Stoevring Birgitte,Leren Trond P,Eschen Ole,Sørensen Karina M,Tybjærg-Hansen Anne,Ousager Lilian B,Pedersen Lisbeth N,Frikke-Schmidt Ruth,Aidt Frederik H,Hansen Michael G,Hansen Jim,Bloch Thomsen Poul E,Toft Egon,Henriksen Finn L,Bundgaard Henning,Jensen Henrik K,Kanters Jørgen K

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1471-2350-15-31.pdf

Reference69 articles.

1. Crotti L, Celano G, Dagradi F, Schwartz PJ: Congenital long QT syndrome. Orphanet J Rare Dis. 2008, 3: 18-10.1186/1750-1172-3-18.

2. Hedley PL, Jorgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M: The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009, 30 (11): 1486-1511. 10.1002/humu.21106.

3. Yang Y, Liang B, Liu J, Li J, Grunnet M, Olesen SP, Rasmussen HB, Ellinor PT, Gao L, Lin X, Li L, Wang L, Xiao J, Liu Y, Liu Y, Zhang S, Liang D, Peng L, Jespersen T, Chen YH: Identification of a Kir3.4 mutation in congenital long QT syndrome. Am J Hum Genet. 2010, 86 (6): 872-880. 10.1016/j.ajhg.2010.04.017.

4. Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009, 6 (9): 1297-1303. 10.1016/j.hrthm.2009.05.021.

5. Antzelevitch C: Role of spatial dispersion of repolarization in inherited and acquired sudden cardiac death syndromes. Am J Physiol Heart Circ Physiol. 2007, 293 (4): H2024-2038. 10.1152/ajpheart.00355.2007.

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