Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man-Reference-Cited by-同舟云学术

Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man

Published:2011-01-11 Issue:3 Volume:86 Page:260-264
ISSN:0902-4441
Container-title:European Journal of Haematology
language:en
Short-container-title:

Author:

del-Castillo-Rueda Alejandro,Moreno-Carralero María-Isabel,Álvarez-Sala-Walther Luis-Antonio,Cuadrado-Grande Nuria,Enríquez-de-Salamanca Rafael,Méndez Manuel,Morán-Jiménez María-Josefa

Publisher

Wiley

Subject

Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0609.2010.01565.x/fullpdf

Reference32 articles.

1. Hereditary hemochromatosis - a new look at an old disease;Pietrangelo;N Engl J Med,2004

2. EASL clinical practice guidelines for HFE hemochromatosis;European Association for the Study of the Liver L;J Hepatol,2010

3. Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes;Mariani;Blood Cells Mol Dis,2010

4. The ferroportin disease;Pietrangelo;Blood Cells Mol Dis,2004

5. Genetic and clinical heterogeneity of ferroportin disease;Cremonesi;Br J Haematol,2005

Cited by 11 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. A disease-causing mutation K240E disrupts ferroportin trafficking by SUMO (ferroportin SUMOylation);Biochemistry and Biophysics Reports;2021-03

2. Iron;Essential and Toxic Trace Elements and Vitamins in Human Health;2020

3. Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features;Pharmaceuticals;2019-09-09

4. Ferroportin disease: pathogenesis, diagnosis and treatment;Haematologica;2017-11-03

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