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Article

Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide.

The Journal of clinical endocrinology and metabolism - 1 May 2004

Fingerhut Anja, Reutrakul Sirimon, Knuedeler Sebastian D, Moeller Lars C, Greenlee Carol, Refetoff Samuel, Janssen Onno E

Abstract excerpt

We present an unusual variant of T(4)-binding globulin (TBG) found in a family from Allentown, Pennsylvania (TBG-AT). The heterozygous proposita presented serum total T(4) and TBG levels ranging from low to normal. TBG gene sequencing revealed a C-to-T substitution in codon -2 (CAC to TAC) leading to the substitution of the normal histidine by a tyrosine within the signal peptide. No mutation within the mature...

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Identifiers

PMID: 15126580
DOI: 10.1210/jc.2003-031613

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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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