- Genetic Mutation in Korean Patients of Sudden Cardiac Arrest as a Surrogating Marker of Idiopathic Ventricular Arrhythmia
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Son MK, Ki CS, Park SJ, Huh J, Kim JS, On YK
- KMID: 1777497
- J Korean Med Sci.
- 2013 Jul;28(7):1021-1026.
- doi: 10.3346/jkms.2013.28.7.1021
Mutation or common intronic variants in cardiac ion channel genes have been suggested to be associated with sudden cardiac death caused by idiopathic ventricular tachyarrhythmia. This study aimed to find... -
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- Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome
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Sung JY, Bae EJ, Park S, Kim SY, Hyun YJ, Park SS, Seong MW
- KMID: 1791957
- Ann Lab Med.
- 2014 Sep;34(5):395-398.
- doi: 10.3343/alm.2014.34.5.395
Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with sequence variations in more than 10 genes; in some cases, it is caused by large deletions or duplications among... -
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- Jervell and Lange-Nielsen Syndrome: Novel Compound Heterozygous Mutations in the KCNQ1 in a Korean Family
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Baek JS, Bae EJ, Lee SY, Park SS, Kim SY, Jung KN, Noh CI
- KMID: 2157860
- J Korean Med Sci.
- 2010 Oct;25(10):1522-1525.
- doi: 10.3346/jkms.2010.25.10.1522
The Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterized by congenital deafness and cardiac phenotype (QT prolongation, ventricular arrhythmias, and sudden death). JLNS has been shown to... -
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- Association of Variants in PPARgamma2, IGF2BP2, and KCNQ1 with a Susceptibility to Gestational Diabetes Mellitus in a Korean Population
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Chon SJ, Kim SY, Cho NR, Min DL, Hwang YJ, Mamura M
- KMID: 1503896
- Yonsei Med J.
- 2013 Mar;54(2):352-357.
- doi: 10.3349/ymj.2013.54.2.352
PURPOSE: Patients with gestational diabetes mellitus (GDM) have been reported to exhibit the same genetic susceptibility as that observed in those with type 2 diabetes mellitus (T2DM). Recent polymorphism studies... -
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