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

Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.

The British journal of dermatology - 1 Jan 2016

Mizawa M, Makino T, Nakano H, Sawamura D, Shimizu T

Abstract excerpt

Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria caused by both the partial deficiency of ferrochelatase (FECH) and the existence of cytosine at IVS3-48 in trans to a mutated FECH allele. However, physicians occasionally encounter patients with EPP with a mild phenotype associated with a slight increase in the erythrocyte-free protoporphyrin concentration and no FECH gene mutations. In this...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to DNA, Recombinant
Share to Ferrochelatase

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

Share to Homozygote

Share to Mutation

Share to Polymorphism, Genetic

Share to Protoporphyria, Erythropoietic

Share to Recurrence

Source

Identifiers

PMID: 26280465
DOI: 10.1111/bjd.14078

Genes

FECH

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.PMID 26280465Read ↗

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.Semantic proximity Read ↗

A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria.Semantic proximity Read ↗

Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.Semantic proximity Read ↗

Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.Semantic proximity Read ↗

Allele variation in the ferrochelatase gene in a Chinese pedigree of erythropoietic protoporphyriaSemantic proximity Read ↗

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.Semantic proximity Read ↗

Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria.Semantic proximity Read ↗

A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.Semantic proximity Read ↗

Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.Semantic proximity Read ↗

Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.Semantic proximity Read ↗

Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.Semantic proximity Read ↗

The molecular genetics of erythropoietic protoporphyria.Semantic proximity Read ↗

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