Article
Three novel mutations of thyroid hormone receptor beta gene in unrelated patients with resistance to thyroid hormone: two mutations of the same codon (H435L and H435Q) produce separate subtypes of resistance.
The Journal of clinical endocrinology and metabolism - 1 Dec 1995
Tsukaguchi H, Yoshimasa Y, Fujimoto K, Ishii H, Yamamoto T, Yoshimasa T, Yagura T, Takamatsu J
Abstract excerpt
We report three novel mutations of the thyroid hormone receptor beta (TR beta) gene in three unrelated Japanese patients with resistance to thyroid hormone (RTH). Patients A and B exhibited generalized resistance phenotype, while patient C displayed more pituitary-selective unresponsiveness. Direct sequencing of TR beta gene exon 10 disclosed novel point mutations in all three patients. A Phe to Ile (TTC-->ATC)...
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