Article
Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.
The Journal of clinical investigation - 1 Mar 1993
Edery M, Rozakis-Adcock M, Goujon L, Finidori J, Lévi-Meyrueis C, Paly J, Djiane J, Postel-Vinay M C, Kelly P A
Abstract excerpt
A single point mutation in the growth hormone (GH) receptor gene generating a Phe-->Ser substitution in the extracellular binding domain of the receptor has been identified in one family with Laron type dwarfism. The mutation was introduced by site-directed mutagenesis into cDNAs encoding the full-length rabbit GH receptor and the extracellular domain or binding protein (BP) of the human and rabbit GH receptor,...
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