Article
Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria.
Journal of inherited metabolic disease - 1 Jan 1990
Picat C, Delfau M H, de Rooij F W, Beukeveld G J, Wolthers B G, Wadman S K, Nordmann Y, Grandchamp B
Abstract excerpt
The molecular abnormalities responsible for acute intermittent porphyria were investigated in both parents of a girl who was retrospectively diagnosed as having a homozygous form of the disease. The mutations in the parents are different from each other and both of them correspond to previously i...
Topics
- Acute Disease
- Base Sequence
- DNA
- Female
- Heterozygote
- Humans
- Hydroxymethylbilane Synthase
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Porphyrias