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Article

Two novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency.

European journal of endocrinology - 1 Apr 2002

Domingues Rita, Bugalho Maria João, Garrão António, Boavida José Manuel, Sobrinho Luís

Abstract excerpt

OBJECTIVE: Search for germline mutations in the thyroxine-binding globulin (TBG) gene of two unrelated Portuguese females of Caucasian origin in whom the diagnosis of TBG deficiency was suspected because of suppressed TSH despite marginally low total thyroxine and tri-iodothyronine. DESIGN AND METHODS: Screening for germline mutations was conducted by non-radioactive PCR-SSCP analysis. The variants documented by...

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Identifiers

PMID: 11916615
DOI: 10.1530/eje.0.1460485

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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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