Varaico: Literature-Extracted Genetic Variants

Gene:HAMP
Variant:p.T31delFs
Back to variants list

HAMP

NM_021175.4:p.T31delFs

Associated Papers

Hepcidin Signaling in Health and Disease: Ironing Out the Details.

Kowdley KV et al.

Hepatology Communications, 2021

Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.

Kowdley DS et al.

The Application of Clinical Genetics, 2021

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

The molecular genetics of haemochromatosis.

Le Gac G et al.

European Journal of Human Genetics : Ejhg, 2005

Hepcidin in iron overload disorders.

Papanikolaou G et al.

Blood, 2005

[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

Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.

Biasiotto G et al.

Clinical Chemistry, 2003

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

Roetto A et al.

Nature Genetics, 2003

Hematologically important mutations: iron storage diseases.

Beutler L et al.

Blood Cells, Molecules & Diseases, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."