Article
Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
Journal of inherited metabolic disease - 1 Jan 2004
Schneider-Yin X, Hergersberg M, Schuurmans M M, Gregor A, Minder E I
Abstract excerpt
Acute intermittent porphyria (AIP) is an inherited disorder in the haem biosynthetic pathway caused by a partial deficiency of porphobilinogen (PBG) deaminase. To date, more than 200 different mutations have been identified in the PBG deaminase gene (PBGD) in AIP patients from various countries and ethnic groups. While the majority of the PBGD gene mutations, including most of the mutations occurring at CpG...
Topics
- Chromosome Mapping
- Cloning, Molecular
- CpG Islands
- DNA Mutational Analysis
- Exons
- Female
- Haplotypes
- Humans
- Hydroxymethylbilane Synthase
- Introns
- Male
- Microsatellite Repeats
- Mutation
- Pedigree
- Polymorphism, Single Nucleotide
- Porphyria, Acute Intermittent
- Sequence Analysis, DNA