Low Penetrant Hemochromatosis Phenotype in Eight Families: No Evidence of Modifiers in the MHC Region-Reference-Cited by-同舟云学术

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Low Penetrant Hemochromatosis Phenotype in Eight Families: No Evidence of Modifiers in the MHC Region

Published:2001-03 Issue:2 Volume:27 Page:518-529
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Sachot Sonia,Moirand Romain,Jouanolle Anne-Marie,Mosser Jean,Fergelot Patricia,Deugnier Yves,Brissot Pierre,le Gall Jean-Yves,David Véronique

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference48 articles.

1. Survival and causes of death in cirrhotic and non-cirrhotic patients with primary hemochromatosis;Niedereau;N. Engl. J. Med.,1985

2. Hemochromatosis: Precirrhotic therapy restores normal life expectancy;Powell;Hepatology,1986

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

4. Crystal structure of the hemochromatosis protein HFE and characterisation of its interaction with transferrin receptor;Lebron;Cell,1998

5. HFE gene knockout produces mouse model of hereditary hemochromatosis;Zhou;Proc. Natl. Acad. Sci. USA,1998

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Iron loading in HFE p.C282Y homozygotes found by population screening: relationships to HLA-type and T-lymphocyte subsets;Scandinavian Journal of Clinical and Laboratory Investigation;2017-07-05

2. Effects of Highly Conserved Major Histocompatibility Complex (MHC) Extended Haplotypes on Iron and Low CD8+ T Lymphocyte Phenotypes in HFE C282Y Homozygous Hemochromatosis Patients from Three Geographically Distant Areas;PLoS ONE;2013-11-25

3. Iron Metabolism and Related Disorders;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

4. Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression;Human Molecular Genetics;2012-02-28

5. Factors influencing disease phenotype and penetrance in HFE haemochromatosis;Human Genetics;2010-07-06

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