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-Reference-Cited by-同舟云学术

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

Published:2019-10-09 Issue:1 Volume:50 Page:144-150
ISSN:1386-6346
Container-title:Hepatology Research
language:en
Short-container-title:Hepatol Res

Author:

Kawaguchi Takumi¹^ORCID,Ikuta Katsuya²^ORCID,Tatsumi Yasuaki³,Toki Yasumichi²,Hayashi Hisao³,Tonan Tatsuyuki⁴,Ohtake Takaaki⁵,Hoshino Seiichiro⁶,Naito Masayasu⁶,Kato Koichi³,Okumura Toshikatsu²,Torimura Takuji¹

Affiliation:

1. Division of Gastroenterology, Department of Medicine Kurume University School of Medicine Kurume Japan

2. Division of Gastroenterology and Hematology/Oncology, Department of Medicine Asahikawa Medical University Asahikawa Japan

3. Laboratory of Medicine, Aichi‐Gakuin University School of Pharmacy Nagoya Japan

4. Department of Radiology Kurume University School of Medicine Kurume Japan

5. Department of Gastroenterology International University of Health and Welfare Hospital Nasushiobara Japan

6. Naito Hospital Kurume Japan

Publisher

Wiley

Subject

Infectious Diseases,Hepatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hepr.13423

Reference17 articles.

1. Haemochromatosis

2. EASL clinical practice guidelines for HFE hemochromatosis

3. Epidemiology and diagnostic testing for hemochromatosis and iron overload

4. Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease

5. Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin

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1. A Revised Classification of Primary Iron Overload Syndromes;Journal of Clinical and Translational Hepatology;2024-03-19

2. A case of hemochromatosis due to heterozygous mutations in <i>TfR2</i>;Kanzo;2022-03-01

3. Juvenile Hemochromatosis: A Case Report and Review of the Literature;Pharmaceuticals;2020-08-15