Article
Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.
The Journal of clinical investigation - 1 Mar 1991
Amselem S, Sobrier M L, Duquesnoy P, Rappaport R, Postel-Vinay M C, Gourmelen M, Dallapiccola B, Goossens M
Abstract excerpt
In addition to its classical effects on growth, growth hormone (GH) has been shown to have a number of other actions, all of which are initiated by an interaction with specific high affinity receptors present in a variety of tissues. Purification of a rabbit liver protein via its ability to bind...
Topics
- Dwarfism
- Genes
- Humans
- Mutation
- Oligonucleotides
- Pedigree
- Polymerase Chain Reaction
- Receptors, Somatotropin