An arginine to histidine mutation in codon 311 of the C-erbAβ gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype

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...

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