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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1992-6-9
|
| pubmed:abstractText |
A sister and brother with severe porphobilinogen (PBG) deaminase deficiency are described. Each of their parents carries a different mutation for acute intermittent porphyria and the children are homozygous for the PBG-deaminase deficiency that causes this disorder. Both are compound heterozygotes for adjacent base transitions in the same codon in exon 10 of the PBG deaminase gene.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
89
|
| pubmed:geneSymbol |
PBG
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
97-8
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:1577472-Base Sequence,
pubmed-meshheading:1577472-Codon,
pubmed-meshheading:1577472-Female,
pubmed-meshheading:1577472-Homozygote,
pubmed-meshheading:1577472-Humans,
pubmed-meshheading:1577472-Hydroxymethylbilane Synthase,
pubmed-meshheading:1577472-Male,
pubmed-meshheading:1577472-Molecular Sequence Data,
pubmed-meshheading:1577472-Mutation,
pubmed-meshheading:1577472-Polymerase Chain Reaction,
pubmed-meshheading:1577472-Porphyria, Acute Intermittent,
pubmed-meshheading:1577472-Porphyrias
|
| pubmed:year |
1992
|
| pubmed:articleTitle |
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.
|
| pubmed:affiliation |
Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|