Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.D249H
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HJV

NM_213653.4:p.D249H

Associated Papers

Primary Non-HFE Hemochromatosis: A Review.

Turshudzhyan A et al.

Journal of Clinical and Translational Hepatology, 2023

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Hernández G et al.

Genes, 2021

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

Kowdley DS et al.

The Application of Clinical Genetics, 2021

Juvenile Hemochromatosis: A Case Report and Review of the Literature.

Takami A et al.

Pharmaceuticals (basel, Switzerland), 2020

Identification of heterozygous p.Y150C and p.V274M mutations in the HJV gene in a Japanese patient with a mild phenotype of juvenile hemochromatosis: A case report.

Kawaguchi T et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2020

Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.

Kong X et al.

Orphanet Journal of Rare Diseases, 2019

[Analysis of HFE and Non-HFE Mutations in a Tibet Cohort with Iron Overload].

Sun SY et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2019

Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.

Lv T et al.

Journal of Medical Genetics, 2018

Iron overload patients with unknown etiology from national survey in Japan.

Ikuta K et al.

International Journal of Hematology, 2017

Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.

Core AB et al.

Frontiers in Pharmacology, 2014

Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.

McDonald CJ et al.

Journal of Gastroenterology and Hepatology, 2013

Clinicopathological study of Japanese patients with genetic iron overload syndromes.

Hattori A et al.

Pathology International, 2012

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders.

Kaneko Y et al.

Journal of Gastroenterology, 2010

Genetic background of Japanese patients with adult-onset storage diseases in the liver.

Hayashi H et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2007

Genetic background of primary iron overload syndromes in Japan.

Hayashi H et al.

Internal Medicine (tokyo, Japan), 2006

Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene.

Koyama C et al.

Journal of Hepatology, 2005

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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."