Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The British journal of dermatology - 1 Feb 1997

McGrath J A, Hawk J L, Graham R M, Christiano A M

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Flavoproteins
Share to Homozygote
Share to Mitochondrial Proteins
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Oxidoreductases

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Protoporphyrinogen Oxidase

Source

Identifiers

PMID: 9068758
DOI: 10.1111/j.1365-2133.1997.tb14923.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria.PMID 9068758Read ↗

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

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

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

A puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia trait.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 ↗

Two new mutations in the PPOX gene in a patient with variegate porphyria.Semantic proximity Read ↗

Clinical and genetic features of variegate porphyria in a Chinese patient.Semantic proximity Read ↗

Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.Semantic proximity Read ↗

Swiss patients with variegate porphyria have unique mutations.Semantic proximity Read ↗

Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.Semantic proximity Read ↗

The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.