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Article

Functional characterization of a new human Ad4BP/SF-1 variation, G146A.

Biochemical and biophysical research communications - 28 Nov 2003

WuQiang Fan, Yanase Toshihiko, Wei Liu, Oba Koichi, Nomura Masatoshi, Okabe Taijiro, Goto Kiminobu, Nawata Hajime

Abstract excerpt

Ad4BP/SF-1 plays key roles at all levels of the hypothalamic-pituitary-steroidogenic organ axis and its functional disruption causes endocrine disorders of these organs. However, only three human subjects with Ad4BP/SF-1 mutations have been reported to date, suggesting limited clinical significance as a cause of inborn adrenal or sexual abnormalities. We report the first functional characterization of a new...

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PMID: 14623279
DOI: 10.1016/j.bbrc.2003.10.096

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GCG

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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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