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New in vivo mutations in G protein-coupled receptors open opportunities for insights into the mechanism of receptor activation. Here we describe the molecular mechanism of constitutive TSH receptor (TSHR) activation in an Austrian family with three generations of familial nonautoimmune hyperthyroidism.

the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism

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