Article
Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene.
Thyroid : official journal of the American Thyroid Association - 1 Oct 1999
Costagliola S, Sunthorntepvarakul T, Migeotte I, Van Sande J, Kajava A M, Refetoff S, Vassart G
Abstract excerpt
The functional and structural characteristics of two previously described "loss-of-function" mutants of the thyrotropin receptor (TSHR) gene were analyzed by transient transfection in COS cells. Both mutations (Pro162Ala, Ile167Asn) are located in the putative extracellular hormone-binding domain of the receptor. The following parameters were analyzed: expression of native receptor on the cell surface (as...
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