Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

doi:10.1038/ng1274

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Article

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

Nature genetics - 1 Jan 2004

Papanikolaou George, Samuels Mark E, Ludwig Erwin H, MacDonald Marcia L E, Franchini Patrick L, Dubé Marie-Pierre, Andres Lisa, MacFarlane Julie, Sakellaropoulos Nikos, Politou Marianna, Nemeth Elizabeta, Thompson Jay, Risler Jenni K, Zaborowska Catherine, Babakaiff Ryan, Radomski Christopher C, Pape Terry D, Davidas Owen, Christakis John, Brissot Pierre, Lockitch Gillian, Ganz Tomas, Hayden Michael R, Goldberg Y Paul

Abstract excerpt

Juvenile hemochromatosis is an early-onset autosomal recessive disorder of iron overload resulting in cardiomyopathy, diabetes and hypogonadism that presents in the teens and early 20s (refs. 1,2). Juvenile hemochromatosis has previously been linked to the centromeric region of chromosome 1q (refs. 3-6), a region that is incomplete in the human genome assembly. Here we report the positional cloning of the locus...

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PMID: 14647275
DOI: 10.1038/ng1274

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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