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

Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.

Biochemical and biophysical research communications - 4 Sept 1996

Puy H, Robréau A M, Rosipal R, Nordmann Y, Deybach J C

Abstract excerpt

Variegate porphyria (VP) is an autosomal dominant disorder of heme synthesis caused by a partial deficiency of protoporphyrinogen oxidase (PPOX). Human cDNA encoding PPOX has been recently sequenced and the gene has been cloned, assigned to chromosome 1q23, and its exon/intron organization has been characterized. We report here the complete nucleotide sequence of the Human PPOX gene. Including 660 bp of its...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence
Share to Cloning, Molecular

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

Share to DNA, Complementary

Share to Molecular Sequence Data

Share to Mutation

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 8806618
DOI: 10.1006/bbrc.1996.1337

Genes

PPOX

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

Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.PMID 8806618Read ↗

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

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

Novel PPOX mutations in two variegate porphyria pedigreesSemantic proximity Read ↗

Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.Semantic proximity Read ↗

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.Semantic proximity Read ↗

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

The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.Semantic proximity Read ↗

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

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

Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.Semantic proximity Read ↗

Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.Semantic proximity Read ↗

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