Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

doi:10.1111/ejh.12170

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

Community

Back to search

Article

Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

European journal of haematology - 1 Oct 2013

Bento Celeste, Almeida Helena, Maia Tabita M, Relvas Luís, Oliveira Ana C, Rossi Cédric, Girodon François, Fernandez-Lago Carlos, Aguado-Diaz Ascension, Fraga Cristina, Costa Ricardo M, Araújo Ana L, Silva João, Vitória Helena, Miguel Natalina, Silveira Maria Pedro, Martin-Nuñez Guillermo, Ribeiro Maria Letícia

Abstract excerpt

INTRODUCTION: Congenital erythrocytosis can be classified as primary, when the defect is intrinsic to the RBC progenitors and independent of the serum erythropoietin (Epo) concentration, or secondary, when the erythrocytosis is the result of an upregulation of Epo production. Primary erythrocytosis is associated with mutations in the EPOR gene, secondary CE can de due to mutations that stabilize the hemoglobin in...

Read the complete abstract on PubMed

Topics

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

Share to Hemoglobins, Abnormal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypoxia-Inducible Factor-Proline Dioxygenases

Share to Janus Kinase 2

Share to Molecular Biology

Share to Molecular Chaperones

Share to Oxygen

Share to Polycythemia

Share to Receptors, Erythropoietin

Source

Open in PubMed

Identifiers

PMID: 23859443
DOI: 10.1111/ejh.12170

Genes

VHL
EGLN1
EPOR
EPAS1
EPO
HBB
JAK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).PMID 23859443Read ↗

Genetic basis of congenital erythrocytosis.Semantic proximity Read ↗

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

Erythrocytosis: genes and pathways involved in disease development.Semantic proximity Read ↗

Congenital erythrocytosis.Semantic proximity Read ↗

Genetic Background of Congenital Erythrocytosis.Semantic proximity Read ↗

Novel mutations in the EPO-R, VHL and EPAS1 genes in the Congenital Erythrocytosis patients.Semantic proximity Read ↗

Genetically heterogeneous origins of idiopathic erythrocytosis.Semantic proximity Read ↗

Genotype–phenotype correlation of hereditary erythrocytosis mutations, a single center experienceSemantic proximity Read ↗

Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis-associated genes in the Slovenian family with idiopathic erythrocytosis.Semantic proximity Read ↗

Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain.Semantic proximity Read ↗

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.Semantic proximity Read ↗

The complete evaluation of erythrocytosis: congenital and acquired.Semantic proximity Read ↗

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