Work

Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent

Year: 2008

Type: article

Study design: Case Report

Abstract: Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent

Source: Haematologica

DOI: 10.3324/haematol.12884

Authors: V. Gerolami, G. Le Gac, L. Mercier, M. Nezri, J-L. Berge-Lefranc, C. Ferec

Institution: Inserm

Language: English

Topic: Iron Metabolism and Disorders

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,157

Funder: Institut National de la Santé et de la Recherche Médicale

OpenAlex ID: W2054410074

FWCI: 1.489

Cites: 10

Cited by: 24

Related to: 10