A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote-Reference-Cited by-同舟云学术

A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote

Published:2004-06-25 Issue:3 Volume:66 Page:214-216
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Barton JC,West C,Lee PL,Beutler E

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2004.00285.x/fullpdf

Reference20 articles.

1. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis;Feder;Nat Genet,1996

2. Mutation analysis in hereditary hemochromatosis;Beutler;Blood Cells Mol Dis,1996

3. Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis;Barton;Blood Cells Mol Dis,1997

4. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis;Mura;Blood,1999

5. Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y;Wallace;J Hepatol,2002

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1. Molecular Testing in Hemochromatosis;Diagnostic Molecular Pathology;2017

2. HFE gene: Structure, function, mutations, and associated iron abnormalities;Gene;2015-12

3. Genetic Testing for Disorders of Iron Homeostasis;Iron Physiology and Pathophysiology in Humans;2011-11-24

4. Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants;Haematologica;2011-01-12

5. Molecular diagnosis of genetic iron-overload disorders;Expert Review of Molecular Diagnostics;2010-09