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Article

Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease.

Molecular and cellular endocrinology - 1 Jun 1995

Gustavsson B, Eklöf C, Westermark K, Westermark B, Heldin N E

Abstract excerpt

Nucleotide sequence analysis of PCR fragments corresponding to the TSH-receptor (TSHR) amplified from genomic DNA collected from the four members of a family, two of which had Graves' thyrotoxicosis, revealed a nucleotide substitution in the first position of codon 36 of the TSH-receptor gene in the two patients. The nucleotide substitution was from G to C, leading to a 36D-->36H change (D36H) in the predicted...

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Source

Identifiers

PMID: 7556878
DOI: 10.1016/0303-7207(95)03562-l

Genes

TSHR

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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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Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease.PMID 7556878Read ↗

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