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.
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R. Paschke | J. Meiler | M. Eszlinger | O. Rittinger | H. Jaeschke | Joerg Schaarschmidt | S. Huth | R. Puttinger | J. Schaarschmidt