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Short QT syndrome-1; SQT1

Disease ID:855
Name:Short QT syndrome-1; SQT1
Associated with:1 target
Familial short QT syndrome
Database Links
OMIM: 609620
Orphanet: ORPHA51083


References:  1-2
Mutations:  Kv11.1 is associated with 2 mutation. Click here for details


No ligand related data available for Short QT syndrome-1; SQT1


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1. Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, Menendez TM, Brugada J, Pollevick GD, Wolpert C et al.. (2004) Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation, 109 (1): 30-5. [PMID:14676148]

2. Sun Y, Quan XQ, Fromme S, Cox RH, Zhang P, Zhang L, Guo D, Guo J, Patel C, Kowey PR et al.. (2011) A novel mutation in the KCNH2 gene associated with short QT syndrome. J Mol Cell Cardiol, 50 (3): 433-41. [PMID:21130771]