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Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.

Human mutation - 1 Nov 2004

Echwald Søren M, Andersen Kirstine L, Sørensen Thorkild I A, Larsen Lesli H, Andersen Teis, Tonooka Naoko, Tomura Hideaki, Takeda Jun, Pedersen Oluf

Abstract excerpt

Variations of the small heterodimer partner (SHP, NR0B2) gene, an atypical nuclear receptor that inhibits transactivation by hepatocyte nuclear factor (HNF)-4alpha, are associated with obesity among Japanese. The purpose of the study was to evaluate the prevalence of SHP variants among obese Danish men. Using combined SSCP and heteroduplex analysis, we analyzed the entire coding region of SHP for variants in a...

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PMID: 15459958
DOI: 10.1002/humu.20090

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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