Variegate Porphyria: Identification of a Nonsense Mutation in the Protoporphyrinogen Oxidase Gene
Open Access
- 1 April 1998
- journal article
- review article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 110 (4) , 449-451
- https://doi.org/10.1046/j.1523-1747.1998.00147.x
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected ProbandJournal of Investigative Dermatology, 1998
- Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase geneHuman Genetics, 1996
- A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyriaNature Genetics, 1996
- Cloning and Characterization of the Yeast HEM14 Gene Coding for Protoporphyrinogen Oxidase, the Molecular Target of Diphenyl Ether-type HerbicidesPublished by Elsevier ,1996
- Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyriaHuman Molecular Genetics, 1996
- Cloning of a Human cDNA for Protoporphyrinogen Oxidase by Complementation in Vivo of a hemG Mutant of Escherichia coliPublished by Elsevier ,1995
- Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.Proceedings of the National Academy of Sciences, 1993
- Human Gene Mutations Affecting RNA Processing and TranslationAnnals of Medicine, 1993
- Prognosis of Acute ProphyriaMedicine, 1992
- The clinical and biochemical features of variegate porphyria: An analysis of 300 cases studied at Groote Schuur Hospital, Cape TownInternational Journal of Biochemistry, 1980