Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain.
Genetic analysis in our laboratory of families with generalized thyroid hormone resistance (GTHR) has demonstrated tight linkage with a locus, c-erbA beta, encoding a nuclear T3 receptor. Three point mutations and two deletions in this locus have previously been reported in affected individuals in u...
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| Udgivet i: | J Clin Invest |
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| Principais autores: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society for Clinical Investigation
1991
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295818/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1661299/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115542 |
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