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A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.

Generalized thyroid hormone resistance (GTHR) is a disorder of thyroid hormone action that we have previously shown to be tightly linked to one of the two thyroid hormone receptor genes, c-erbA beta, in a single kindred, A. We now show that in two other kindreds, B and D, with differing phenotypes,...

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Publicado en:J Clin Invest
Autores principales: Usala, S J, Tennyson, G E, Bale, A E, Lash, R W, Gesundheit, N, Wondisford, F E, Accili, D, Hauser, P, Weintraub, B D
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 1990
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Acceso en línea:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296391/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2153155/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114438
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