Article
G protein-coupled receptors disrupted in human genetic disease.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2008
Thompson Miles D, Percy Maire E, McIntyre Burnham W, Cole David E C
Abstract excerpt
Genetic variation in G protein-coupled receptors (GPCRs) results in the disruption of GPCR function in a wide variety of human genetic diseases. In vitro strategies have been used to elucidate the molecular pathologies that underlie naturally occurring GPCR mutations. Various degrees of inactive, overactive, or constitutively active receptors have been identified. These mutations often alter ligand binding, G...
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