A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7.

Jaeschke H, Schaarschmidt J, Eszlinger M, Huth S, Puttinger R, Rittinger O, Meiler J, Paschke R
J Clin Endocrinol Metab. 2014 99 (10): E2051-9

PMID: 24947036 · DOI:10.1210/jc.2014-1436

MeSH Terms (14)

Adult Austria Base Sequence Family Health Female Goiter, Nodular Humans Hyperthyroidism Pedigree Point Mutation Pregnancy Pregnancy Complications Receptors, Thyrotropin Stereoisomerism

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