Article
Seven novel genetic mutations within the 5'UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria.
Blood cells, molecules & diseases - 1 Jan 2000
Brancaleoni Valentina, Granata Francesca, Colancecco Alessandra, Tavazzi Dario, Cappellini Maria Domenica, Di Pierro Elena
Abstract excerpt
Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by molecular abnormalities in the HMBS gene. This gene is transcribed from two promoters to produce ubiquitous and erythroid specific isoforms of porphobilinogen deaminase (PBGD). In the classical form of AIP, both isoforms are deficient, but about 5% of families have the non-erythroid variant in which only the ubiquitous isoform is...
Topics
- 5' Untranslated Regions
- Base Sequence
- Binding Sites
- Genes, Dominant
- Genes, Reporter
- Humans
- Hydroxymethylbilane Synthase
- Isoenzymes
- K562 Cells
- Luciferases
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction