- 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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