Article
Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.
Genomics - 1 Jan 1993
Yoo H W, Warner C A, Chen C H, Desnick R J
Abstract excerpt
Acute intermittent porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis, results from the half-normal activity of the heme biosynthetic enzyme hydroxymethylbilane synthase (HMB-synthase). Heterozygous individuals are prone to life-threatening acute neurologic attacks, which ar...
Topics
- Alleles
- Base Sequence
- DNA
- Erythrocytes
- Gene Amplification
- Gene Frequency
- Haplotypes
- Humans
- Hydroxymethylbilane Synthase
- Introns
- Molecular Sequence Data
- Mutation
- Polymorphism, Restriction Fragment Length
- Promoter Regions, Genetic
- Repetitive Sequences, Nucleic Acid
- Restriction Mapping