Deficiência parcial da proteína transportadora de tiroxina (TBG) : estudo do gene serpina7 e padrão de inativação do cromossomo x em uma família brasileira
Abstract:Background: Thyroxine-binding globulin (TBG) is the major human thyroid hormone transport protein. Inherited TBG abnormalities that implicated the protein's structure and function result in complete (TBG-CD) and partial (TBG-PD) and TBG deficiency. The SERPINA7 gene encodes TBG and it is located on the long arm of the X chromosome (Xq22.2). Objectives: The purpose of this study was to perform the molecular analysis of the SERPINA7 gene in a Brazilian family with TBG-PD, investigate the X-chromosome inactivatio… Show more
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