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Article

Rapid detection of a point mutation in thyroid-stimulating hormone beta-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency.

Jinrui idengaku zasshi. The Japanese journal of human genetics - 1 Dec 1991

Mori R, Sawai T, Kinoshita E, Baba T, Matsumoto T, Yoshimoto M, Tsuji Y, Satake Y, Sawada K

Abstract excerpt

Previous study showed that congenital isolated TSH deficiency in Japan is resulted exclusively from a G-A transition at nucleotide 145 in exon 2 of the TSH beta-subunit gene. All reported cases were from the inbred in Shikoku Island. We describe here a 10-year-old boy with hereditary TSH deficiency in the same area. The patient was born with a weight of 3,225 g to non-consanguineous parents. Evaluation at age 2...

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Source

Identifiers

PMID: 1811097
DOI: 10.1007/BF01883604

Genes

TRH

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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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Rapid detection of a point mutation in thyroid-stimulating hormone beta-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency.PMID 1811097Read ↗

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