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...
Sparad:
| I publikationen: | J Clin Invest |
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| Huvudupphov: | , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
American Society for Clinical Investigation
1993
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| Ämnen: | |
| Länkar: | 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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