Article
New pathogenic thyrotropin receptor mutations decipher differentiated activity switching at a conserved helix 6 motif of family A GPCR.
The Journal of clinical endocrinology and metabolism - 1 Feb 2012
Biebermann Heike, Winkler Franziska, Handke Daniela, Teichmann Anke, Gerling Burkhard, Cameron Fergus, Eichhorst Jenny, Grüters Annette, Wiesner Burkhard, Kühnen Peter, Krude Heiko, Kleinau Gunnar
Abstract excerpt
CONTEXT: In this paper we report two new TSH receptor (TSHR) mutations. One mutation (Pro639(6.50)Leu) was identified in two siblings with congenital hypothyroidism, and a second mutation (Cys636(6.47)Arg) was found in a patient suffering from nonautoimmune hyperthyroidism. Both mutations are located in transmembrane helix (TMH) 6 at the conserved Cys(6.47)-Trp(Met)(6.48)-Leu(Ala)(6.49)-Pro(6.50) motif of family...
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