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

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

The British journal of dermatology - 1 Mar 2010

Whatley S D, Mason N G, Holme S A, Anstey A V, Elder G H, Badminton M N

Abstract excerpt

BACKGROUND: Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, less frequently, the delta-aminolaevulinate synthase 2 (ALAS2) gene. Predictive genetic counselling requires accurate molecular diagnosis and knowledge of patterns of inhe...

Read the complete abstract on PubMed

Topics

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

Share to 5-Aminolevulinate Synthetase
Share to Cross-Sectional Studies
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ferrochelatase

Share to Prevalence

Share to Protoporphyria, Erythropoietic

Share to Statistics as Topic

Share to United Kingdom

Source

Identifiers

PMID: 20105171
DOI: 10.1111/j.1365-2133.2010.09631.x

Genes

FECH
ALAS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20105171-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular epidemiology of erythropoietic protoporphyria in the U.K.PMID 20105171Read ↗

Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.Semantic proximity Read ↗

The molecular genetics of erythropoietic protoporphyria.Semantic proximity Read ↗

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.Semantic proximity Read ↗

Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.Semantic proximity Read ↗

[Inheritance in erythropoietic protoporphyria].Semantic proximity Read ↗

Molecular characterization of erythropoietic protoporphyria in South Africa.Semantic proximity Read ↗

Erythropoietic protoporphyriaSemantic proximity Read ↗

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.Semantic proximity Read ↗

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.Semantic proximity Read ↗

A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.Semantic proximity Read ↗

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.Semantic proximity Read ↗

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

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