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The binding of the AR to its native ligands 5-dihydrotestosterone (DHT) and testosterone initiates male sexual development and differentiation

[DOI] [PubMed] [Google Scholar] Weiss SJ

The primary defect is missense mutation in the HFE gene resulting in a cysteine to tyrosine substitution at aminoacidic 282 (C282Y), a protein that interacts with transferrin receptor 1 (TfR1) and regulates the expression of hepcidin, a key regulator of iron metabolism represented in Diagram B of Figure 2

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