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Article

Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita.

Metabolism: clinical and experimental - 1 Nov 2011

Choi Jin-Ho, Park Jung-Young, Kim Gu-Hwan, Jin Hye Young, Lee Beom Hee, Kim Jae Hyun, Shin Choong Ho, Yang Sei Won, Yoo Han-Wook

Abstract excerpt

X-linked adrenal hypoplasia congenita with hypogonadotropic hypogonadism and adrenal insufficiency is a rare disorder caused by mutations of DAX-1. In this study, we investigated the functional defects of DAX-1 caused by mutations identified in 3 unrelated Korean patients with adrenal hypoplasia congenita. The DAX-1 gene was directly sequenced using genomic DNA isolated from peripheral blood leukocytes. The...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21632081
DOI: 10.1016/j.metabol.2011.03.023

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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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