Article
Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.
Human molecular genetics - 1 Feb 1995
Kosugi S, Van Dop C, Geffner M E, Rabl W, Carel J C, Chaussain J L, Mori T, Merendino J J, Shenker A
Abstract excerpt
Familial male precocious puberty (FMPP) is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. A heterozygous mutation encoding substitution of Asp578 with Gly in transmembrane helix 6 of the G protein-coupled receptor for luteinizing hormone (LHR) has been found in affected males from nine American FMPP families. Cells expressing the mutant LHR exhibit markedly...
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