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Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions. This produced restlessness, perturbed sleep and deterioration of school performance necessitating discontinuation of thyroid hormone treatment. J Clin Endocrinol Metab 1986; 63:1432-1437 Rosen HN, Moses AC, Murrell JR, Liepnieks JJ, Benson MD.

Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. Proc Natl Acad Sci U S A 1994; 91:2275-2279 Bennhold H, Peters H, Roth E. In the bottom panel are represented the structures of the T4 (1) binding pockets of the four mutant HSA showing, a better accommodation of T4 than in the WT HSA and thus, resulting in enhanced binding (From Erik Schoenmakers, University of Cambridge,UK). In contrast, when the defect results in a significant alteration of the affinity of the variant protein for the hormone, estimates of the free thyroid hormone level give often erroneous results and thus, it is prudent to measure the free hormone concentration by more direct methods such as equilibrium dialysis or ultrafiltration. Proc Natl Acad Sci U S A 2006; 103:13321-13326 Ferrara AM, Cakir M, Henry PH, Refetoff S.



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  • Recent Updates

    26.11.2017

    Familial dysalbuminemic hyperthyroxinemia: A syndrome that can be confused with thyrotoxicosis. A variant with increased affinity for T3 has been also identified.

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    15.08.2017

    Their primary structure defect, some of their physical and chemical properties and the resulting serum T4 concentrations are summarized in Table 1 and figure 1. Hum Genet 1992; 89:199-203 Duhan U, Patston P.

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    03.11.2017

    Mutations in the transthyretin (TTR) gene producing a molecule with increased affinity for T4 are relatively rare. J Clin Invest 1987; 79:833-840 expression of thyroxine-binding globulin (TBG) variants: Impaired secretion of TBG Refetoff S, Murata Y.

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    18.09.2017

    More precise identification of TBG defects requires sequencing of the TBG gene. J Clin Endocrinol Metab 1994; 79:740-744 Daiger SP, Rummel DP, Wang L, Cavalli-Sforza LL.

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    27.09.2017

    A nucleotide insertion and frameshift cause analbuminemia in an Italian family. Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American Blacks.

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    29.11.2017

    Since the publication of this family in 1968 (12), the cause of the TBG defect was identified. High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel.

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