Article
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria.
Human genetics - 1 Nov 1998
Puy H, Gross U, Deybach J C, Robréau A M, Frank M, Nordmann Y, Doss M
Abstract excerpt
Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial defect of the heme biosynthesis enzyme, porphobilinogen deaminase (PBGD). PBGD is encoded by two distinct mRNA species expressed in a tissue-specific manner from a single gene. One transcript is expressed in...
Topics
- Adult
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Exons
- Female
- Humans
- Hydroxymethylbilane Synthase
- Middle Aged
- Mutation
- Porphyria, Acute Intermittent
- RNA Splicing
- RNA, Messenger
- Sequence Analysis, DNA