Genomics & Genetics Weekly

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Diagnostics

Mutation screening identifies SCN5A gene-associated cardiac arrhythmias

Scientists in Denmark report, "Mutations in the SCN5A gene coding for the alpha-subunit of the cardiac Na⁺ ion channel cause long QT syndrome, Brugada syndrome, idiopathic ventricular fibrillation, sick sinus node syndrome, progressive conduction disease, dilated cardiomyopathy and atrial standstill. These diseases exhibit variable expressivity, and identification of gene carriers is clinically important, particularly in sudden infant and adult death syndromes."

J....

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