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Jervell and Lange-Nielsen Syndrome: Novel Compound Heterozygous Mutations in the KCNQ1 in a Korean Family

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 occur due to homozygous mutation in KCNQ1 or KCNE1. There have been a few c...

詳細記述

保存先:
書誌詳細
主要な著者: Baek, Jae Suk, Bae, Eun Jung, Lee, Sang Yun, Park, Sung Sup, Kim, So Yeon, Jung, Kyu Nam, Noh, Chung Il
フォーマット: Artigo
言語:Inglês
出版事項: The Korean Academy of Medical Sciences 2010
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2946666/
https://ncbi.nlm.nih.gov/pubmed/20890437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.10.1522
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