Article
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.
Human genetics - 1 Apr 1992
Llewellyn D H, Smyth S J, Elder G H, Hutchesson A C, Rattenbury J M, Smith M F
Abstract excerpt
A sister and brother with severe porphobilinogen (PBG) deaminase deficiency are described. Each of their parents carries a different mutation for acute intermittent porphyria and the children are homozygous for the PBG-deaminase deficiency that causes this disorder. Both are compound heterozygote...
Topics
- Base Sequence
- Codon
- Female
- Homozygote
- Humans
- Hydroxymethylbilane Synthase
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Porphyria, Acute Intermittent
- Porphyrias