Article
Cloning and expression of the defective genes in delta-aminolevulinate dehydratase porphyria: compound heterozygosity in this hereditary liver disease.
Transactions of the Association of American Physicians - 1 Jan 1992
Sassa S, Ishida N, Fujita H, Fukuda Y, Noguchi T, Doss M, Kappas A
Abstract excerpt
Cloning and expression of the defective genes for ALAD from a patient with inherited ADP were carried out. Two separate point mutations, termed G1 and G2, resulting in a single amino acid change in each ALAD allele, were identified. The G1 mutation (C718-->T) occurred in the allele within the substrate-binding site, producing an Arg240-->Trp substitution; the G2 mutation (G820-->A) occurred downstream of this...
Topics
- Adolescent
- Alleles
- Animals
- CHO Cells
- Cloning, Molecular
- Cricetinae
- DNA
- Female
- Gene Expression
- Heterozygote
- Humans