Article
Mild resistance to thyroid hormone with a truncated thyroid hormone receptor beta.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Jan 1996
Taniyama M, Kusano S, Miyoshi Y, Nakamura H, Kaihara M, Tobe T, Tomita M, Katagiri T, Ban Y
Abstract excerpt
Recent studies have revealed mutations in the thyroid hormone receptor beta (TR beta) gene as a cause of the most cases of the thyroid hormone resistance syndrome. We have identified a novel nonsense mutation in codon 449 in the 3' end of exon 10 in the TR beta gene in a 16-year-old male patient...
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