Article
Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria.
Biochemical and biophysical research communications - 15 Oct 1990
Ishida N, Fujita H, Noguchi T, Doss M, Kappas A, Sassa S
Abstract excerpt
The molecular basis of the enzymatic defect responsible for acute hepatic porphyria due to delta-aminolevulinate dehydratase (ALAD) deficiency was investigated in a family including a proband with the acute disease. In order to delineate the mutation in the proband, cDNA for deficient ALAD was sy...
Topics
- Cell Line
- Cloning, Molecular
- Erythrocytes
- Female
- Genetic Carrier Screening
- Humans
- Liver Diseases
- Male
- Molecular Sequence Data
- Oligonucleotide Probes
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Porphobilinogen Synthase
- Porphyrias
- Restriction Mapping