Article
Functional analysis of the distal region of the third intracellular loop of PROKR2.
Biochemical and biophysical research communications - 13 Sept 2013
Zhou Xiao-Tao, Chen Dan-Na, Xie Zhi-Qun, Peng Zhen, Xia Kai-De, Liu Hua-Die, Liu Wei, Su Bing, Li Jia-Da
Abstract excerpt
Mutations in the G-protein-coupled receptor PROKR2 have been identified in patients with idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) manifesting with delayed puberty and infertility. Recently, the homozygous mutation V274D was identified in a man displaying KS with a...
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