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Article

Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.

Thyroid : official journal of the American Thyroid Association - 1 Apr 1998

Targovnik H M, Frechtel G D, Mendive F M, Vono J, Cochaux P, Vassart G, Medeiros-Neto G

Abstract excerpt

We have previously reported a Brazilian family with congenital goiter, hypothyroidism, and marked impairment of thyroglobulin (Tg) synthesis. Analysis of the Tg mRNA in the goiter of one of the siblings revealed a cytosine to thymine transition creating a stop codon at position 1510. This point mutation is removed from the majority of Tg mRNA transcripts by the preferential generation in the goiter of a 171 nt...

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Identifiers

PMID: 9588493
DOI: 10.1089/thy.1998.8.291

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