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Article

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

1 May 1996

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8673113
DOI: 10.1038/ng0596-95

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Related research

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A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyriaPMID 8673113Read ↗

Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria.Semantic proximity Read ↗

Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.Semantic proximity Read ↗

Update on enzyme and molecular defects in porphyria.Semantic proximity Read ↗

Variegate porphyria.Semantic proximity Read ↗

Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.Semantic proximity Read ↗

The molecular basis of South African genetic porphyria established at last!Semantic proximity Read ↗

Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.Semantic proximity Read ↗

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.Semantic proximity Read ↗

Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.Semantic proximity Read ↗

Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.Semantic proximity Read ↗

Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.Semantic proximity Read ↗

Novel PPOX mutations in two variegate porphyria pedigreesSemantic proximity Read ↗

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