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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...

Topics

Child
Congenital Hypothyroidism
Genes
Humans
Hypothyroidism
Male
Mutation
Polymerase Chain Reaction
Thyrotropin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1811097
DOI: 10.1007/BF01883604

Genes

TRH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1811097-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 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 ↗

New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.Semantic proximity Read ↗

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