Discover Community Create You

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

Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.

Molecular genetics and metabolism - 1 Apr 2000

Corrigall A V, Hift R J, Davids L M, Hancock V, Meissner D, Kirsch R E, Meissner P N

Abstract excerpt

Variegate porphyria is an autosomal dominant disorder of heme metabolism which results from decreased activity of the enzyme protoporphyrinogen oxidase. Clinically, the disease manifests postpubertally and is characterized by photocutaneous sensitivity and/or acute neurovisceral crises. However, in homozygous variegate porphyria, onset of the disease usually occurs in infancy with severe skin manifestations. The...

Read the complete abstract on PubMed

Topics

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

Share to Family Health
Share to Flavoproteins
Share to Heteroduplex Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mitochondrial Proteins

Share to Oxidoreductases

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Protoporphyrinogen Oxidase

Share to South Africa

Source

Identifiers

PMID: 10870850
DOI: 10.1006/mgme.2000.2975

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.PMID 10870850Read ↗

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 ↗

Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.Semantic proximity Read ↗

A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family.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 ↗

Variegate porphyria.Semantic proximity Read ↗

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

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

Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.Semantic proximity Read ↗

Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.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 ↗

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

Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.Semantic proximity Read ↗

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