Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.R178G
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SLC40A1

NM_014585.6:p.R178G

Associated Papers

Reduced iron export associated with hepcidin resistance can explain the iron overload spectrum in ferroportin disease.

Viveiros A et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2020

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.

Ka C et al.

Haematologica, 2018

Ferroportin disease: pathogenesis, diagnosis and treatment.

Pietrangelo A

Haematologica, 2017

Reply to: "SLC40A1-R178G or R178Q and ferroportin disease? A call for vigilance in mutation reporting".

Speletas M et al.

Journal of Hepatology, 2013

SLC40A1-R178G or R178Q and ferroportin disease? A call for vigilance in mutation reporting.

Wallace DF

Journal of Hepatology, 2013

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

Non-HFE hemochromatosis.

Santos PC et al.

Revista Brasileira De Hematologia E Hemoterapia, 2012

SLC40A1-R178G mutation and ferroportin disease.

Speletas M et al.

Journal of Hepatology, 2011

Non-HFE hepatic iron overload.

Pietrangelo A et al.

Seminars in Liver Disease, 2011

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

Mayr R et al.

Journal of Hepatology, 2010

Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV.

Speletas M et al.

Blood Cells, Molecules & Diseases, 0

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