Article
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
The Journal of clinical endocrinology and metabolism - 1 Mar 2005
Semple R K, Achermann J C, Ellery J, Farooqi I S, Karet F E, Stanhope R G, O'rahilly S, Aparicio S A
Abstract excerpt
It has recently been shown that loss-of-function mutations of the G protein-coupled receptor (GPR)54 lead to isolated hypogonadotropic hypogonadism (IHH) in mice and humans. Such mutations are thought to be rare, even within the clinical IHH population, and only a handful of alleles have been described, making further screening of IHH populations imperative. We examined the genes encoding GPR54 and its putative...
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