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Article

C-terminal amino acid alteration rather than late termination causes complete deficiency of thyroxine-binding globulin CD-NeuIsenburg.

The Journal of clinical endocrinology and metabolism - 1 Aug 2006

Moeller Lars C, Fingerhut Anja, Lahner Harald, Grasberger Helmut, Weimer Bernd, Happ Joachim, Mann Klaus, Janssen Onno E

Abstract excerpt

CONTEXT: T(4)-binding globulin (TBG) is the main transport protein for T(4) in blood and a member of the superfamily of serine proteinase inhibitors. So far, 14 mutations leading to familial complete TBG deficiency have been reported. Eleven of these are caused by mutations leading to truncation of the molecule, and three are caused by single amino acid substitutions. OBJECTIVE: We report and study the complete...

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Identifiers

PMID: 16735497
DOI: 10.1210/jc.2005-2261

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

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