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Article

A novel hepcidin mutation.

Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine - 1 Aug 2023

Praeger-Jahnsen Louis, Magnussen Karin, Schiødt Frank Vinholt, Therkildsen Rikke Christina, Jørgensen Niels, Friis-Hansen Lennart

Abstract excerpt

BACKGROUND: The bioactive peptide hormone hepcidin-25 regulates iron levels by inhibiting iron transport to plasma via ferroportin. Hepcidin-25 is synthesized in the liver where the 84 amino acids pro-hepcidin is cleaved into the bioactive hepcidin-25. A patient admitted to the hospital presented with infertility and fatigue. METHODS: Genomic DNA was purified from whole blood using the Maxwell 16 system...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36925058
DOI: 10.1016/j.tracli.2023.03.001

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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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