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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2004-10-12
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pubmed:abstractText |
Hemochromatosis is a genetic disorder characterized by progressive iron overload which leads to early abnormalities of iron parameters (increased transferrin saturation =TS and serum ferritin=SF) and late clinical complications. The disease is prevalently due to C282Y and H63D mutations in the HFE gene, but additional molecular defects are present in a minority of patients.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1592-8721
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
89
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1161-7
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:15477198-Adult,
pubmed-meshheading:15477198-Alcohol Drinking,
pubmed-meshheading:15477198-Amino Acid Substitution,
pubmed-meshheading:15477198-Blood Donors,
pubmed-meshheading:15477198-DNA Mutational Analysis,
pubmed-meshheading:15477198-Female,
pubmed-meshheading:15477198-Ferritins,
pubmed-meshheading:15477198-Genotype,
pubmed-meshheading:15477198-Hemochromatosis,
pubmed-meshheading:15477198-Histocompatibility Antigens Class I,
pubmed-meshheading:15477198-Humans,
pubmed-meshheading:15477198-Iron,
pubmed-meshheading:15477198-Iron Overload,
pubmed-meshheading:15477198-Italy,
pubmed-meshheading:15477198-Male,
pubmed-meshheading:15477198-Mass Screening,
pubmed-meshheading:15477198-Membrane Proteins,
pubmed-meshheading:15477198-Middle Aged,
pubmed-meshheading:15477198-Mutation, Missense,
pubmed-meshheading:15477198-Phenotype,
pubmed-meshheading:15477198-Point Mutation,
pubmed-meshheading:15477198-Questionnaires,
pubmed-meshheading:15477198-Transferrin
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pubmed:year |
2004
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pubmed:articleTitle |
Screening selected blood donors with biochemical iron overload for hemochromatosis: a regional experience.
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pubmed:affiliation |
Department of Clinical and Biological Sciences, ASO San Luigi, University of Turin, Turin, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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