Article
Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).
Human mutation - 1 Oct 1999
De Siervi A, Mendez M, Parera V E, Varela L, Batlle A M, Rossetti M V
Abstract excerpt
A partial deficiency of Porphobilinogen deaminase (PBG-D) is responsible for acute intermittent porphyria (AIP). AIP is inherited in an autosomal dominant fashion, and the prevalence in the Argentinean population is about 1:125,000. Here, two new mutations and three previously reported were found in the PBG-D gene in 12 Argentinean AIP patients corresponding to 5 different families. To screen for AIP mutations in...
Topics
- Adolescent
- Adult
- Escherichia coli
- Female
- Humans
- Hydroxymethylbilane Synthase
- Male
- Middle Aged
- Mutation
- Porphyrias
- Reverse Transcriptase Polymerase Chain Reaction