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The cardiac sodium channel mutation delQKP 1507–1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death
AIM: We report diverse phenotypic consequences of the delQKP-1507–1509 cardiac sodium channel mutation in three generations of a Chinese family. METHODS AND RESULTS: Clinical and electrocardiographic (ECG), echocardiographic examination was followed by direct sequencing of SCN5A, KCNQ1, HERG, and LA...
Autores principales: | , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2573028/ https://www.ncbi.nlm.nih.gov/pubmed/18697752 http://dx.doi.org/10.1093/europace/eun202 |