Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].
Ann Biol Clin (Paris)
August 2012
Laboratoire de génétique moléculaire, Centre de référence des surcharges en fer rares d'origine génétique, CHU Pontchaillou, Rennes.
HFE-related hemochromatosis (HFE hemochromatosis) or type 1 hemochromatosis is an autosomal recessive disease characterized by progressive iron overload usually expressed in adulthood. The HFE gene, located on the short arm of chromosome 6 (6p21.3), encodes a protein that plays a crucial role in iron metabolism by modulating hepcidin synthesis in the liver.
View Article and Find Full Text PDFIron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.
Haematologica
April 2011
Laboratoire d'Hématologie, CHU de Montpellier, Montpellier, France.
Background: Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.
View Article and Find Full Text PDF[Old and new iron parameters in iron metabolism and diagnostics].
Ther Umsch
September 2008
Institut für Klinische Chemie und Hämatologie, Kantonsspital, St. Gallen.
Iron is an element which is essential to life but also potentially toxic. Therefore, clever mechanisms exist in the human body for uptake, transport and storage of iron. Hepcidin, which seems to be the master protein for regulation of intestinal iron absorption, is known for a short time.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!