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Article

Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene.

Thyroid : official journal of the American Thyroid Association - 1 Jul 2001

Targovnik H M, Rivolta C M, Mendive F M, Moya C M, Vono J, Medeiros-Neto G

Abstract excerpt

In this work we have extended our initial molecular studies of a consanguineous family with two affected goitrous siblings (H.S.N. and Ac.S.N.) with defective thyroglobulin (Tg) synthesis and secretion because of a homozygotic deletion of a fragment of 138 nucleotides (nt) in the central region of the Tg mRNA, identified previously in H.S.N. In order to identify the intron/exon boundaries and to analyze the...

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Identifiers

PMID: 11484898
DOI: 10.1089/105072501750362763

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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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