A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families
Author:
Publisher
Bioscientifica
Subject
Endocrinology, Diabetes and Metabolism
Reference9 articles.
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2. Hayashi Y, Mori Y, Janssen OE, Sunthornthepvarakul T, Weiss RE, Takeda K, Weinberg M, Seo H, Bell GI, Refetoff S: Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation. Mol Endocrinol 1993;7:1049-1060.
3. Pappa T, Ferrara AM, Refetoff S: Inherited defects of thyroxine-binding proteins. Best Pract Res Clin Endocrinol Metab 2015;29:735-747.
4. Takamatsu J, Refetoff S, Charbonneau M, Dussault JH: Two new inherited defects of the thyroxine-binding globulin (TBG) molecule presenting as partial TBG deficiency. J Clin Invest 1987;79:833-840.
5. Mannavola D, Vannucchi G, Fugazzola L, Cirello V, Campi I, Radetti G, Persani L, Refetoff S, Beck-Peccoz P: TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. J Mol Med (Berlin) 2006;84:864-871.
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