Effects of Mutations Involving the Highly Conserved S281HCC Motif in the Extracellular Domain of the Thyrotropin (TSH) Receptor on TSH Binding and Constitutive Activity*
Author:
Affiliation:
1. Department of Endocrinology (S.C.H.), Singapore General Hospital, Republic of Singapore 169608
2. Institut de Recherche Interdisciplinaire (S.C.H., J.V.S., A.L., G.V., S.C.), Faculty of Medicine, Free University of Brussels B1070, Belgium
Publisher
The Endocrine Society
Subject
Endocrinology
Link
http://academic.oup.com/endo/article-pdf/142/7/2760/10364755/endo2760.pdf
Reference28 articles.
1. A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism [see Comments].;Roux;J Clin Endocrinol Metab,1996
2. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.;Duprez;Nat Genet,1994
3. A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family [see Comments].;Khoo;J Clin Endocrinol Metab,1999
4. Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene[ see Comments].;Kopp;N Engl J Med,1995
5. Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene.;Kopp;Thyroid,1997
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