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

Endocrinology and metabolism (Seoul, Korea) - 1 Dec 2022

Heo Jung, Kim Sang-Mi, Ryu Hyun Jin, Park Hyunju, Kim Tae Hyuk, Chung Jae Hoon, Park Hyung-Doo, Kim Sun Wook

Abstract excerpt

BACKGRUOUND: 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 few studies of TBG deficiency and SERPINA7 gene mutation have been performed in Korea. The aim of this study is to...

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Identifiers

PMID: 36475360
DOI: 10.3803/EnM.2022.1591
PMCID: PMC9816506

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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