Article
An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.
The Journal of clinical investigation - 1 Feb 1993
Geffner M E, Su F, Ross N S, Hershman J M, Van Dop C, Menke J B, Hao E, Stanzak R K, Eaton T, Samuels H H
Abstract excerpt
We have examined the c-erbA beta thyroid hormone receptor gene in a kindred, G.H., with a member, patient G.H., who had a severe form of selective pituitary resistance to thyroid hormones (PRTH). This patient manifested inappropriately normal thyrotropin-stimulating hormone, markedly elevated serum free thyroxine (T4) and total triiodothyronine (T3), and clinical hyperthyroidism. The complete c-erbA beta 1 coding...
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