Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function

Author:

Gawandi S.,Jothivel K.,Kulkarni S.

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference32 articles.

1. Pappa T, Ferrara AM, Refetoff S (2015) Inherited defects of thyroxine-binding proteins. Best Pract Res Clin Endocrinol Metab 29:735–747

2. Langsteger W (1996) Diagnosis of thyroid hormone transport protein anomalies: an overview. Acta Med Austriaca 23:31–40

3. Refetoff S (2015) Abnormal thyroid hormone transport. Endotext [Internet] In: Feingold KR, Anawalt B, Boyce A et al (Eds) Endotext [Internet] South Dart mouth (MA): Thyroid Disease Manager; 2012

4. Gomes-Lima CJ, Maciel AAFL, de Oliveira AM et al (2018) Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling. Gene 666:58–63

5. Okamoto H, Mori Y, Tani Y et al (1996) Molecular analysis of females manifesting thyroxine-binding globulin (TBG) deficiency: selective X-chromosome inactivation responsible for the difference between phenotype and genotype in TBG-deficient females. J Clin Endocrinol Metab 81:2204–2208

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