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

Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.

European journal of haematology - 1 Jun 2015

Di Pierro Elena, Russo Roberta, Karakas Zeynep, Brancaleoni Valentina, Gambale Antonella, Kurt Ismail, Winter S Stuart, Granata Francesca, Czuchlewski David Rodriguez, Langella Concetta, Iolascon Achille, Cappellini Maria Domenica

Abstract excerpt

Congenital erythropoietic porphyria (CEP) is a rare genetic disease that is characterized by a severe cutaneous photosensitivity causing unrecoverable deformities, chronic hemolytic anemia requiring blood transfusion program, and by fatal systemic complications. A correct and early diagnosis is r...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Biopsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone Marrow

Share to Erythrocyte Indices

Share to GATA1 Transcription Factor

Share to Genes, X-Linked

Share to Genetic Association Studies

Share to Porphyrins

Source

Identifiers

PMID: 25251786
DOI: 10.1111/ejh.12452

Genes

GATA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25251786-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.PMID 25251786Read ↗

Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.Semantic proximity Read ↗

Advances in understanding the pathogenesis of congenital erythropoietic porphyria.Semantic proximity Read ↗

X-linked dominant protoporphyria: a new porphyria.Semantic proximity Read ↗

Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case ReportSemantic proximity Read ↗

Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.Semantic proximity Read ↗

Human phenotypes associated with GATA-1 mutations.Semantic proximity Read ↗

Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report.Semantic proximity Read ↗

Congenital erythropoietic porphyria: a single-observer clinical study of 29 casesSemantic proximity Read ↗

Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.Semantic proximity Read ↗

Congenital erythrocytosis.Semantic proximity Read ↗

[Congenital erythropoietic porphyria].Semantic proximity Read ↗

Genetic basis of congenital erythrocytosis: mutation update and online databases.Semantic proximity Read ↗

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