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Article

A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults.

Clinical genetics - 1 Sept 2017

Oh C-M, Chun S, Lee J-E, Lee J S, Park S, Gee H Y, Kim S W

Abstract excerpt

A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism.

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Share to Adrenal Insufficiency
Share to Age of Onset
Share to Amino Acid Substitution
Share to DAX-1 Orphan Nuclear Receptor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Diseases, X-Linked

Share to Mutation, Missense

Share to Protein Conformation

Source

Identifiers

PMID: 28075027
DOI: 10.1111/cge.12966

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Provenance

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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