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

Genetic heterogeneity of primary familial and congenital polycythemia

6 Sept 2001

Abstract excerpt

Primary familial and congenital polycythemia (PFCP) is an inherited disorder of erythroid progenitor cells resulting in elevated erythrocyte mass. Several mutations of the erythropoietin receptor (EPOR) gene have been associated with PFCP, although in a few families the linkage between the EPOR gene and PFCP has been excluded. To examine the role of EPOR mutations in the pathogenesis of PFCP, we studied 43...

Read the complete abstract on PubMed

Topics

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

Share to Erythrocyte Function and Pathophysiology
Share to Myeloproliferative Neoplasms: Diagnosis and Treatment
Share to Platelet Disorders and Treatments

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

Source

Identifiers

PMID: 11559951
DOI: 10.1002/ajh.1162

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

Genetic heterogeneity of primary familial and congenital polycythemiaPMID 11559951Read ↗

Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.Semantic proximity Read ↗

Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.Semantic proximity Read ↗

Erythropoietin hypersensitivity in primary familial and congenital polycythemia: role of tyrosines Y285 and Y344 in erythropoietin receptor cytoplasmic domain.Semantic proximity Read ↗

Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietinSemantic proximity Read ↗

Familial polycythemia due to truncations of the erythropoietin receptor.Semantic proximity Read ↗

Advances in understanding the pathogenesis of primary familial and congenital polycythaemia.Semantic proximity Read ↗

Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia.Semantic proximity Read ↗

Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.Semantic proximity Read ↗

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.Semantic proximity Read ↗

Primary polycythemias.Semantic proximity Read ↗

A Novel EPO Gene Mutation In a Family With Autosomal Dominant PolycythemiaSemantic proximity Read ↗

Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignanciesSemantic proximity Read ↗

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