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Article

Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.

Blood cells, molecules & diseases - 1 Mar 2021

Le Tertre Marlène, Ka Chandran, Raud Loann, Berlivet Isabelle, Gourlaouen Isabelle, Richard Gaëlle, Uguen Kévin, Chen Jian-Min, Férec Claude, Fichou Yann, Le Gac Gérald

Abstract excerpt

Hemochromatosis type 4, or ferroportin disease, is considered as the second leading cause of primary iron overload after HFE-related hemochromatosis. The disease, which is predominantly associated with missense variations in the SLC40A1 gene, is characterized by wide clinical heterogeneity. We tested the possibility that some of the reported missense mutations, despite their positions within exons, cause splicing...

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PMID: 33341511
DOI: 10.1016/j.bcmd.2020.102527

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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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