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Mutations in the cardiac potassium channel HERG (KCNH2) cause chromosome 7-linked long QT syndrome (LQT2) characterized by a prolonged QT interval, recurrent syncope and sudden cardiac death. Most mutations in HERG exhibit ««loss of function»» phenotypes with defective channels either inserted into the plasma membrane or retained in the endoplasmic reticulum. ««Loss of function»» mutations reduce...
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