Article
Gain of function mutants: ion channels and G protein-coupled receptors.
Annual review of neuroscience - 1 Jan 2000
Lester H A, Karschin A
Abstract excerpt
Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive activation and slowed inactivation, elimination of a subunit that enhances inactivation, decreased drug sensitivity, changes in regulation or trafficking of the...
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