Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 8825929.
- Also identified by PMC identifier 1051782.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We have detected four different mutations in the porphobilinogen deaminase (PBGD) gene in acute intermittent porphyria (AIP) families from England, Norway, and Sweden. A splicing mutation in the first position of intron 8 (Int8 + 1) was found in a family from England and a missense mutation in exon 12 (Glu250) was detected in a Norwegian family. Two mutations were identified in Swedish families, one splicing mutation in the first position of intron 3 (Int3 + 1) and one missense mutation in exon 8 (Pro119).
Medical subject headings
- Hydroxymethylbilane Synthase
- Porphyrias