Associated Papers
Hemochromatosis neural archetype reveals iron disruption in motor circuits.
Loughnan R et al.
Science Advances, 2024
39576859 (PubMed )
Supplement: sciadv.adp4431_sm.pdf
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Azabdaftari A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2023
New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation.
Romero-Cortadellas L et al.
International Journal of Molecular Sciences, 2022
35457224 (PubMed )
Supplement: ijms-23-04406-s001.zip › ijms-1661857_supplementary.pdf
DOES SLC11A2 GENE MUTATION ASSOCIATE WITH IRON-REFRACTORY IRON-DEFICIENCY ANEMIA AFTER BARIATRIC SURGERY?
Piatto VB et al.
Arquivos Brasileiros De Cirurgia Digestiva : Abcd = Brazilian Archives of Digestive Surgery, 2022
Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene.
De Falco L et al.
British Journal of Haematology, 2012
H(+)-coupled divalent metal-ion transporter-1: functional properties, physiological roles and therapeutics.
Shawki A et al.
Current Topics in Membranes, 2012
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 E et al.
Blood Cells, Molecules & Diseases, 2011
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