Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. Human genetics. [Hum Genet] Journal article | | Title | Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. | | Author(s) | Llewellyn DH, Smyth SJ, Elder GH, Hutchesson AC, Rattenbury JM, Smith MF | | Institution | Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK. | | Source | Hum Genet 1992 Apr; 89(1):97-8. | | MeSH | Base Sequence
Codon
Female
Homozygote
Humans
Hydroxymethylbilane Synthase
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Porphyria, Acute Intermittent
Porphyrias
Research Support, Non-U.S. Gov't
| | Abstract | 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 heterozygotes for adjacent base transitions in the same codon in exon 10 of the PBG deaminase gene. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 1577472 |
|
|
| |
Advertise on this site.
| | |
|
