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A novel mutation of the KCNH2 gene in a family with congenital long QT syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 77-80, 2010.
Artículo en Chino | WPRIM | ID: wpr-349034
ABSTRACT
<p><b>OBJECTIVE</b>To perform mutation analysis in a family with long QT syndrome.</p><p><b>METHODS</b>The medical record of the affected child and his parents were collected. The locus of gene associated with the long QT syndrome was mapped by linkage analysis. Mutation analysis was done by PCR-single strand conformation polymorphism (SSCP) and direct sequencing.</p><p><b>RESULTS</b>A mutation (L539fs/47) and a SNP (L564L) were found in exon 7 of the KCNH2 gene of the proband. The mutation was from the father.</p><p><b>CONCLUSION</b>A novel mutation of L539fs/47 in the KCNH2 gene was identified in the LQTS family, which might be the disease-causing mutation for the family.</p>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / Síndrome de QT Prolongado / Datos de Secuencia Molecular / Secuencia de Bases / Mutación del Sistema de Lectura / Polimorfismo de Nucleótido Simple / Canales de Potasio Éter-A-Go-Go / Canal de Potasio ERG1 / Genética Límite: Femenino / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2010 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / Síndrome de QT Prolongado / Datos de Secuencia Molecular / Secuencia de Bases / Mutación del Sistema de Lectura / Polimorfismo de Nucleótido Simple / Canales de Potasio Éter-A-Go-Go / Canal de Potasio ERG1 / Genética Límite: Femenino / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2010 Tipo del documento: Artículo