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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2004-8-18
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pubmed:abstractText |
In Ireland, the homozygote frequency of the C282Y mutation in the HFE gene is 1/83. The biochemical expression of this mutation is high in haemochromatosis (HH) individuals identified through family screening, but the clinical expression of the mutation in Irish HH subjects to date has not been investigated fully.
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pubmed:commentsCorrections |
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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 |
Sep
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pubmed:issn |
0954-691X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
16
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
859-63
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:15316409-Adolescent,
pubmed-meshheading:15316409-Adult,
pubmed-meshheading:15316409-Aged,
pubmed-meshheading:15316409-Female,
pubmed-meshheading:15316409-Ferritins,
pubmed-meshheading:15316409-Genetic Testing,
pubmed-meshheading:15316409-Hemochromatosis,
pubmed-meshheading:15316409-Histocompatibility Antigens Class I,
pubmed-meshheading:15316409-Homozygote,
pubmed-meshheading:15316409-Humans,
pubmed-meshheading:15316409-Ireland,
pubmed-meshheading:15316409-Iron Overload,
pubmed-meshheading:15316409-Liver,
pubmed-meshheading:15316409-Liver Cirrhosis,
pubmed-meshheading:15316409-Male,
pubmed-meshheading:15316409-Membrane Proteins,
pubmed-meshheading:15316409-Middle Aged,
pubmed-meshheading:15316409-Mutation,
pubmed-meshheading:15316409-Penetrance,
pubmed-meshheading:15316409-Phlebotomy,
pubmed-meshheading:15316409-Transferrin
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pubmed:year |
2004
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pubmed:articleTitle |
Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening.
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pubmed:affiliation |
Centre for Liver Disease, Mater Misericordiae University Hospital, Dublin, Ireland.
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pubmed:publicationType |
Journal Article
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