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Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea

BACKGROUND: Thyroxine-binding globulin (TBG) is a major transporter protein for thyroid hormones. The serpin family A member 7 (SERPINA7) gene codes for TBG, and mutations of the SERPINA7 gene result in TBG deficiency. Although more than 40 mutations have been reported in several countries, only a f...

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Detalles Bibliográficos
Autores principales: Heo, Jung, Kim, Sang-Mi, Ryu, Hyun Jin, Park, Hyunju, Kim, Tae Hyuk, Chung, Jae Hoon, Park, Hyung-Doo, Kim, Sun Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Endocrine Society 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9816506/
https://www.ncbi.nlm.nih.gov/pubmed/36475360
http://dx.doi.org/10.3803/EnM.2022.1591