Source:http://linkedlifedata.com/resource/pubmed/id/12071824
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
7
|
| pubmed:dateCreated |
2002-6-19
|
| pubmed:abstractText |
Hepatoerythropoietic porphyria (HEP) is usually a severe form of cutaneous porphyria, characterized biochemically by an increased urinary excretion of polycarboxylated porphyrins. The disease is the result of a profound deficiency (<10% of normal activity) of uroporphyrinogen decarboxylase (UROD) activity. Hepatoerythropoietic porphyria is inherited as an autosomal recessive trait, whereas familial porphyria cutanea tarda is dominant. At least 30 different mutations of the UROD gene have been identified in patients with HEP and familial porphyria cutanea tarda, with 1 predominant missense mutation (glycine-to-glutamic acid substitution at codon 281) in Spanish patients with HEP.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0003-987X
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
138
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
957-60
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| pubmed:dateRevised |
2008-3-17
|
| pubmed:meshHeading |
pubmed-meshheading:12071824-Amino Acid Substitution,
pubmed-meshheading:12071824-Child, Preschool,
pubmed-meshheading:12071824-Chromosome Aberrations,
pubmed-meshheading:12071824-Codon,
pubmed-meshheading:12071824-Consanguinity,
pubmed-meshheading:12071824-Female,
pubmed-meshheading:12071824-Genes, Recessive,
pubmed-meshheading:12071824-Heterozygote Detection,
pubmed-meshheading:12071824-Homozygote,
pubmed-meshheading:12071824-Humans,
pubmed-meshheading:12071824-Leucine,
pubmed-meshheading:12071824-Male,
pubmed-meshheading:12071824-Mutation,
pubmed-meshheading:12071824-Phenylalanine,
pubmed-meshheading:12071824-Porphyria, Erythropoietic,
pubmed-meshheading:12071824-Pregnancy,
pubmed-meshheading:12071824-Prenatal Diagnosis,
pubmed-meshheading:12071824-Uroporphyrinogen Decarboxylase
|
| pubmed:year |
2002
|
| pubmed:articleTitle |
Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.
|
| pubmed:affiliation |
Laboratoire de Pathologie Moléculaire et Thérapie Génique, Université Victor Segalen-Bordeaux 2, 146, rue Léo Saignat, 33076 Bordeaux CEDEX, France. Cecile.Ged@pmtg.u-bordeaux2.fr
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|