rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
4
|
pubmed:dateCreated |
2000-11-7
|
pubmed:abstractText |
Hereditary hemochromatosis is associated with C282Y homozygosity. Some heterozygotes may also present with abnormal iron parameters. However, the precise role of H63D and C282Y mutations in iron overload is poorly understood. We investigated the level of expression of the mutated and unmutated HFE alleles in these heterozygous patients.
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pubmed:commentsCorrections |
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
AIM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Oct
|
pubmed:issn |
0016-5085
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
119
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
1075-86
|
pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11040194-Adult,
pubmed-meshheading:11040194-Amino Acid Substitution,
pubmed-meshheading:11040194-Codon,
pubmed-meshheading:11040194-Duodenum,
pubmed-meshheading:11040194-Female,
pubmed-meshheading:11040194-Ferritins,
pubmed-meshheading:11040194-Gene Amplification,
pubmed-meshheading:11040194-Genes, MHC Class I,
pubmed-meshheading:11040194-Genotype,
pubmed-meshheading:11040194-HLA Antigens,
pubmed-meshheading:11040194-Hemochromatosis,
pubmed-meshheading:11040194-Heterozygote,
pubmed-meshheading:11040194-Histocompatibility Antigens Class I,
pubmed-meshheading:11040194-Humans,
pubmed-meshheading:11040194-Liver,
pubmed-meshheading:11040194-Lymphocytes,
pubmed-meshheading:11040194-Male,
pubmed-meshheading:11040194-Membrane Proteins,
pubmed-meshheading:11040194-Middle Aged,
pubmed-meshheading:11040194-Point Mutation,
pubmed-meshheading:11040194-RNA, Messenger,
pubmed-meshheading:11040194-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:11040194-Transcription, Genetic
|
pubmed:year |
2000
|
pubmed:articleTitle |
Differential HFE allele expression in hemochromatosis heterozygotes.
|
pubmed:affiliation |
Service d'Hépatogastroentérologie, Hôpital Saint-Antoine and Université Pierre et Marie Curie, Paris, France. olivier.rosmorduc@sat.ap-hop-paris.fr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|