Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene

Purpose T4-binding globulin (TBG) is the main thyroid hormone (TH) transporter present in human serum. Inherited thyroxine-binding globulin (TBG) deficiency is caused by mutations in the TBG ( SERPINA7 ) gene, which is located on the X chromosome. This study was performed to report and evaluate codi...

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Veröffentlicht in:	Journal of endocrinological investigation 2020-12, Vol.43 (12), p.1703-1710
Hauptverfasser:	Chen, L.-D., Lu, H.-J., Gan, Y.-L., Pang, S.-W., Zheng, Q., Ye, D.-M., Huang, X.-Y., Qi, H.-N., Xu, W.-B., Wen, X.-Z., Li, L.-H., Li, L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alanine Bioinformatics Endocrinology Globulins Internal Medicine Medicine Medicine & Public Health Metabolic Diseases Mutation Original Article Pedigree Thyroid Thyroid gland Thyroxine Valine
Online-Zugang:	Volltext
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