Article
Homozygous premature truncation of the HERG protein : the human HERG knockout.
Circulation - 21 Sept 1999
Hoorntje T, Alders M, van Tintelen P, van der Lip K, Sreeram N, van der Wal A, Mannens M, Wilde A
Abstract excerpt
Background-In long-QT syndrome (LQTS), heterozygosity for a mutation in 1 of the K(+) channel genes leads to prolongation of the cardiac action potential, because the aberrant protein exhibits "loss of function." HERG, which is involved in LQT2, is the gene encoding the rapid component of the delayed rectifier, I(Kr). Methods and Results-In a consanguineous family, a stillbirth was followed by the premature birth...
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