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Article

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.

The Journal of clinical endocrinology and metabolism - 1 Dec 2016

Parween Shaheena, Roucher-Boulez Florence, Flück Christa E, Lienhardt-Roussie Anne, Mallet Delphine, Morel Yves, Pandey Amit V

Abstract excerpt

CONTEXT: P450 oxidoreductase (POR) is required for the activities of steroid-metabolizing cytochrome P450 enzymes in the endoplasmic reticulum. POR deficiency (PORD) is a form of congenital adrenal hyperplasia. Objective and Aim: Enzymatic and structural analysis of a novel L374H POR mutation from a patient with 46,XX disorder of sexual development. Design, Setting, Patient, and Intervention: The patient was a...

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Identifiers

PMID: 27603900
DOI: 10.1210/jc.2016-1928

Genes

POR

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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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