The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.
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چکیده
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منابع مشابه
Lack of association between coding region of KCNE2 gene and the congenital long QT syndrome in an Iranian population
Introduction: Congenital long QT syndrome (LQTS) is a cardiac disorder characterized by QT interval prolongation at basal ECG. Different LQTS genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. Long QT syndrome type 6 (LQT6) is caused by mutation in the KCNE2 gene. Our research aimed to analyze genetic variants of KCNE2 gene causing the disease in Irania...
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Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
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متن کاملهای اسید گلوتامیک، تریپتوفان، آلانین tRNA بررسی مولکولی در Long QT وآسپارژین درژنوم میتوکندری بیماران مبتلا بهسندرم مقایسه با گروه کنترل
Background and purpose: Long QT syndrome is a heart arrhythmia identified by prolongation of the QT interval which is a cause of sudden cardiac death in young individuals. In most cases, abnormalities in heart repolarization are reasons of prolongation of action potential and arrhythmia. The activity of ion channels is sensitive to ATP level, therefore, mitochondrial disorders are considered...
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Since 1995, when a potassium channel gene, hERG (human ether-à-go-go-related gene), now referred to as KCNH2, encoding the rapid component of cardiac delayed rectifier potassium channels was identified as being responsible for type 2 congenital long-QT syndrome, a number of potassium channel genes have been shown to cause different types of inherited cardiac arrhythmia syndromes. These include ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 40 2 شماره
صفحات -
تاریخ انتشار 2003