Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome

@inproceedings{Gao2012GenotypephenotypeAO,
  title={Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome},
  author={Yuanfeng Gao and Cui-Lan Li and Wenling Liu and Robby Wu and Xiaoliang Qiu and Ruijuan Liang and Lei Li and Li Zhang and Da-yi Hu},
  booktitle={Journal of cardiovascular disease research},
  year={2012}
}
BACKGROUND Long QT syndrome (LQTS) is characterized by QT prolongation, syncope and sudden death. This study aims to explore the causes, clinical manifestations and therapeutic outcomes of Jervell and Lange-Nielsen syndrome (JLNS), a rare form of LQTS with congenital sensorineural deafness, in Chinese individuals. MATERIALS AND METHODS Three JLNS kindreds from the Chinese National LQTS Registry were investigated. Mutational screening of KCNQ1 and KCNE1 genes was performed by polymerase chain… CONTINUE READING

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1 Excerpt

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