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Article

A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

The Journal of clinical investigation - 1 Dec 1991

Ieiri T, Cochaux P, Targovnik H M, Suzuki M, Shimoda S, Perret J, Vassart G

Abstract excerpt

A case of congenital goiter with defective thyroglobulin synthesis has been studied in molecular terms. The patient is the fifth of a kindred of six, three of which have a goiter. The parents are first cousins. Segregation of thyroglobulin alleles in the family was studied by Southern blotting with a probe revealing a diallelic restriction fragment length polymorphism (RFLP). The results demonstrated that the...

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Identifiers

PMID: 1752952
DOI: 10.1172/JCI115513
PMCID: PMC295759

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Source receipt: pubmed, retrieved 7 Sept 2026.

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