Article
Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor.
The Journal of clinical endocrinology and metabolism - 1 Dec 1998
Wojcik J, Berg M A, Esposito N, Geffner M E, Sakati N, Reiter E O, Dower S, Francke U, Postel-Vinay M C, Finidori J
Abstract excerpt
We have analyzed the GH receptor (GHR) gene in four individuals with Laron syndrome, and a missense mutation was identified for each patient in the extracellular domain of the GHR (D152H, I153T, Q154P, and V155G). The D152H mutation was previously reported. We have reproduced the three novel muta...
Topics
- Adult
- Amino Acid Substitution
- Binding, Competitive
- Cell Line, Transformed
- Child, Preschool
- Dwarfism
- Female
- Glycosylation
- Humans
- Infant
- Intracellular Membranes
- Male
- Mutation
- Receptors, Somatotropin