Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-019-1097-2.pdf
Reference74 articles.
1. Pelusi C, Gasparini DI, Bianchi N, Pasquali R. Endocrine dysfunction in hereditary hemochromatosis. J Endocrinol Invest. 2016;39:837–47.
2. Bardou-Jacquet E, Ben Ali Z, Beaumont-Epinette M, Loreal O, Jouanolle A, Brissot P. Non-HFE hemochromatosis: Pathophysiological and diagnostic aspects. Clin Res Hepatol Gastroenterol. 2014;38:143–54.
3. Wallace DF, Subramaniam VN. The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data. Genet Med. 2016;18:618–26.
4. Malyszko J. Hemojuvelin: The Hepcidin Story Continues. Kidney Blood Press Res. 2009;32:71–6.
5. Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004;36:77–82.
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