Linked Life Data

20843199

Source:http://linkedlifedata.com/resource/pubmed/id/20843199

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2010-9-16
pubmed:abstractText
Genetic iron overload has long been confined to the picture of classical hemochromatosis related to the HFE C282Y mutation (type 1 hemochromatosis). C282Y homozygosity affects approximately three people out of 1000 of the Caucasian population, representing one of the most frequent genetic predispositions. It has, however, rapidly become clear that the HFE C282Y mutation is not the sole culprit in genetic iron overload. Several novel mutations in HFE and other genes have been discovered and related to various entities, which are now known as types 2, 3 and 4 hemochromatosis. These diseases are far less frequent than the classical type 1 hemochromatosis but, by contrast, are not limited to the Caucasian population. Molecular diagnosis obviously plays a key role in the diagnostic strategy. In the future, it will undoubtedly enable not only identification of new diagnostic markers, but also provide potential molecular targets for pathophysiologically based innovative therapeutic approaches.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1744-8352
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
755-63
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Molecular diagnosis of genetic iron-overload disorders.
pubmed:affiliation
Liver Disease Unit, INSERM U-991, National Reference Center for Genetic Iron Overload and Laboratory of Molecular Genetics Hôpital Pontchaillou, Rue Henri Le Guilloux, Rennes, France. pierre.brissot@univ-rennes1.fr
pubmed:publicationType
Journal Article, Review