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 ful...
Topics
- Animals
- Binding, Competitive
- Cell Line
- Cell Membrane
- Chlorocebus aethiops
- Dwarfism
- Genetic Vectors
- Growth Hormone
- Humans
- Kidney
- Kinetics
- Mutagenesis, Site-Directed
- Mutation
- Phenylalanine
- Rabbits
- Receptors, Prolactin