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...

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Detalles Bibliográficos
Autores principales: Baek, Jae Suk, Bae, Eun Jung, Lee, Sang Yun, Park, Sung Sup, Kim, So Yeon, Jung, Kyu Nam, Noh, Chung Il
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946666/
https://www.ncbi.nlm.nih.gov/pubmed/20890437
http://dx.doi.org/10.3346/jkms.2010.25.10.1522

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