The homozygous mutation G75R in the human SLC11A2 gene leads to microcytic anaemia and iron overload
Author:
Affiliation:
1. Unidad de Hemato-Oncología Pediátrica; Hospital Universitario 12 de Octubre; Madrid; Spain
2. Centro de Investigación; Instituto de Investigación Hospital 12 de Octubre; Madrid; Spain
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.2012.09043.x/fullpdf
Reference8 articles.
1. A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload;Bardou-Jacquet;Blood Cells Molecules and Diseases,2011
2. Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload;Beaumont;Blood,2006
3. Not all DMT1 mutations lead to iron overload;Blanco;Blood Cells Molecules and Diseases,2009
4. Mutations in the gene encoding DMT1: clinical presentation and treatment;Iolascon;Seminars in Hematology,2009
5. Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2);Iolascon;Blood,2006
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2. New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation;International Journal of Molecular Sciences;2022-04-15
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