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An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism | |
Jung Hyun Shin, Go Hun Seo, Seung Hwan Oh, Woo Yeong Chung, Hye Young Kim, Young Mi Kim, Mi Hye Bae, Kyung Hee Park, Min Jung Kwak | |
Ann Pediatr Endocrinol Metab. 2020;25(4):282-286. Published online December 31, 2020 DOI: https://doi.org/10.6065/apem.2040076.038 |
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An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism Long-Term Carbimazole Treatment of Neonatal Nonautoimmune Hyperthyroidism due to a New Activating TSH Receptor Gene Mutation (Ala428Val) Sporadic Nonautoimmune Congenital Hyperthyroidism due to a Strong Activating Mutation of the Thyrotropin Receptor Gene Case History: A Novel Activating Mutation in Transmembrane Helix 6 of the Thyrotropin Receptor as Cause of Hereditary Nonautoimmune Hyperthyroidism MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G). Congenital Nonautoimmune Hyperthyroidism in a Nonidentical Twin Caused by a Sporadic Germline Mutation in the Thyrotropin Receptor Gene Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation Non-immune thyrotoxicosis caused by thyroid-stimulating hormone receptor activating gene mutation (the first description in Russia) Novel Thyrotropin Receptor Germline Mutation (Ile568Val) in a Saxonian Family with Hereditary Nonautoimmune Hyperthyroidism A Japanese family with familial nonautoimmune hyperthyroidism with a novel mutation (Asn406Ser) in extracellular domain of thyrotrophin receptor |