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Article

Prevalence of C282Y and E168X HFE mutations in an Italian population of Northern European ancestry.

Haematologica - 1 Mar 2003

Salvioni Alessandra, Mariani Raffaella, Oberkanins Christian, Moritz Anne, Mauri Viviana, Pelucchi Sara, Riva Alessia, Arosio Cristina, Cerutti Paolo, Piperno Alberto

Abstract excerpt

BACKGROUND AND OBJECTIVES: In Italy, the prevalence of C282Y is lower than in Northern European countries. We hypothesized a higher prevalence of C282Y in Northern than in Southern Italian populations. We previously identified a nonsense mutation (E168X) in hemochromatosis probands originating from a region in the north-west of Italy. We aimed to define the prevalence of C282Y and E168X in that region and the...

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Source

Identifiers

PMID: 12651261

Genes

HFE
TFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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