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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2001-3-22
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pubmed:abstractText |
Porphyria cutanea tarda (PCT) is associated in most cases with iron overload, which may participate in decreased activity of uroporphyrinogen decarboxylase in the liver. The aetiology of this iron overload remains unknown; however, it has been demonstrated that mutations of HFE, the genetic haemochromatosis gene, might be present in a significant proportion of Anglo-Saxon and Italian patients. Furthermore, transferrin receptor polymorphism may influence the affinity of this receptor to its ligand with a subsequent increase of cellular iron absorption and storage.
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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 |
Mar
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pubmed:issn |
0007-0963
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
144
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
533-9
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:11260010-Adult,
pubmed-meshheading:11260010-Alleles,
pubmed-meshheading:11260010-Female,
pubmed-meshheading:11260010-Genes, MHC Class I,
pubmed-meshheading:11260010-Genotype,
pubmed-meshheading:11260010-HLA Antigens,
pubmed-meshheading:11260010-Hepatitis C,
pubmed-meshheading:11260010-Histocompatibility Antigens Class I,
pubmed-meshheading:11260010-Humans,
pubmed-meshheading:11260010-Iron Overload,
pubmed-meshheading:11260010-Male,
pubmed-meshheading:11260010-Membrane Proteins,
pubmed-meshheading:11260010-Middle Aged,
pubmed-meshheading:11260010-Mutation,
pubmed-meshheading:11260010-Polymorphism, Genetic,
pubmed-meshheading:11260010-Porphyria Cutanea Tarda,
pubmed-meshheading:11260010-Prospective Studies,
pubmed-meshheading:11260010-Receptors, Transferrin
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pubmed:year |
2001
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pubmed:articleTitle |
HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France.
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pubmed:affiliation |
Department of Dermatology-Phlebology, University Hospital of Montpellier, Hôpital Saint-Eloi, 80 avenue Augustin Fliche, 34295 Montpellier cedex 5, France. ofdereure@wanadoo.fr
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pubmed:publicationType |
Journal Article
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