Article
Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene.
The Journal of clinical endocrinology and metabolism - 1 Jul 2011
Boot Annemieke M, Lumbroso Serge, Verhoef-Post Miriam, Richter-Unruh Annette, Looijenga Leendert H J, Funaro Ada, Beishuizen Auke, van Marle André, Drop Stenvert L S, Themmen Axel P N
Abstract excerpt
CONTEXT: Germline and somatic activating mutations in the LH receptor (LHR) gene have been reported. OBJECTIVE: Our objective was to perform mutation analysis of the LHR gene of patients with Leydig cell adenoma or hyperplasia. Functional studies were conducted to compare the D578H-LHR mutant with the wild-type (WT)-LHR and the D578G-LHR mutant, a classic cause of testotoxicosis. The three main signal...
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