Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1990-12-26
|
| pubmed:abstractText |
A mutation of the porphobilinogen (PBG) deaminase gene that produces the cross-reacting immunological material (CRIM)-negative type of acute intermittent porphyria (AIP) has been identified in one of 43 unrelated patients with this form of the disorder. The mutation is a C----T transition that abolishes a PstI recognition site in exon 9 of the gene and converts a codon for glutamine to a stop codon.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
85
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
631-4
|
| pubmed:dateRevised |
2009-9-29
|
| pubmed:meshHeading |
pubmed-meshheading:2227955-Codon,
pubmed-meshheading:2227955-Exons,
pubmed-meshheading:2227955-Humans,
pubmed-meshheading:2227955-Hydroxymethylbilane Synthase,
pubmed-meshheading:2227955-Mutation,
pubmed-meshheading:2227955-Nucleic Acid Hybridization,
pubmed-meshheading:2227955-Pedigree,
pubmed-meshheading:2227955-Polymerase Chain Reaction,
pubmed-meshheading:2227955-Porphyrias,
pubmed-meshheading:2227955-Restriction Mapping,
pubmed-meshheading:2227955-Skin Diseases
|
| pubmed:year |
1990
|
| pubmed:articleTitle |
Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in 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
|