Varaico: Literature-Extracted Genetic Variants

Gene:HAMP
Variant:p.M50del1
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HAMP

NM_021175.4:p.M50del1

Associated Papers

Iron overload phenotypes and HFE genotypes in white hemochromatosis and iron overload screening study participants without HFE p.C282Y/p.C282Y.

Barton JC et al.

Plos One, 2022

Role of HAMP Genetic Variants on Pathophysiology of Iron Deficiency Anemia.

Pandey S et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2018

HAMP Gene Mutation Associated with Juvenile Hemochromatosis in Brazilian Patients.

Fonseca PF et al.

Acta Haematologica, 2016

Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.

Hattori A et al.

Blood Cells, Molecules & Diseases, 2012

Non-HFE haemochromatosis.

Wallace DF et al.

World Journal of Gastroenterology, 2007

[Molecular basis in hereditary haemochromatosis].

Cadet E et al.

La Revue De Medecine Interne, 2005

Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.

Nelson JE et al.

Current Gastroenterology Reports, 2005

Recent advances in understanding haemochromatosis: a transition state.

Robson KJ et al.

Journal of Medical Genetics, 2004

A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.

Delatycki MB et al.

Clinical Genetics, 2004

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.

Livesey KJ et al.

Journal of Medical Genetics, 2004

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

Merryweather-Clarke AT et al.

Human Molecular Genetics, 2003

A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.

Pointon JJ et al.

Blood Cells, Molecules & Diseases, 0

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