Article
Molecular pathophysiology and clinical manifestations of gonadotropin receptor defects.
Steroids - 1 Jan 2000
Simoni M, Gromoll J, Nieschlag E
Abstract excerpt
The gonadotropins luteinizing hormone (LH) and follicle-stimulating hormone (FSH) bind specific receptors, members of the G protein-coupled receptor superfamily. Mutations of gonadotropin receptors are classified into activating (constitutively active or gain-of-function mutations) and inactivating (loss-of-function mutations). Activating mutations of the LH receptor have been described in familial and sporadic...
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