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An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity.
Cugini CD Jr, Leidy JW Jr, Chertow BS, Bérard J, Bradley WE, Menke JB, Hao EH, Usala SJ. Cugini CD Jr, et al. Among authors: usala sj. J Clin Endocrinol Metab. 1992 May;74(5):1164-70. doi: 10.1210/jcem.74.5.1314846. J Clin Endocrinol Metab. 1992. PMID: 1314846
Competitive polymerase chain reaction quantitation of c-erbA beta 1, c-erbA alpha 1, and c-erbA alpha 2 messenger ribonucleic acid levels in normal, heterozygous, and homozygous fibroblasts of kindred S with thyroid hormone resistance.
Klann RC, Torres B, Menke JB, Holbrook CT, Bercu BB, Usala SJ. Klann RC, et al. Among authors: usala sj. J Clin Endocrinol Metab. 1993 Oct;77(4):969-75. doi: 10.1210/jcem.77.4.8408473. J Clin Endocrinol Metab. 1993. PMID: 8408473
48 results