IndraLab

Statements

Mutated KCNH2 inhibits IKr. 3 / 3
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"Mutations of HERG cause the autosomal dominant long-QT syndrome (LQTS), presumably by disrupting the normal function of IKr."
9351462
reach
"Functional expression studies have demonstrated that KCNH2 mutations cause a reduction of IKr current, but, similarly to LQT1 mutations, this effect is realized through different biophysical mechanisms and also though trafficking abnormalities of the mutant proteins [XREF_BIBR]."
18478063
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"Mutation of HERG causes a decrease and a loss of function of IKr resulting in long QT syndrome 2 (LQT2)."
15572050