Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.
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-l...
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| Veröffentlicht in: | J Clin Invest |
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| Hauptverfasser: | , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society for Clinical Investigation
1993
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| Schlagworte: | |
| Online-Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288035/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8450064/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116304 |
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