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Article

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.

Haematologica - 1 May 2007

Rives Susana, Pahl Heike L, Florensa Lourdes, Bellosillo Beatriz, Neusuess Andrea, Estella Jesus, Debatin Klaus-Michael, Kohne Elisabeth, Schwarz Klaus, Cario Holger

Abstract excerpt

Dominant mutations in the erythropoietin receptor (EPOR) gene account for only about 15% of cases of primary congenital erythrocytosis. To search for molecular alterations in patients with this disorder. Sixteen patients with Epo <10 mU/mL were studied, 3 were related. Analyses included EPOR and JAK2 gene sequencing, quantitative PRV-1 RT-PCR, and erythroid colony assays. A novel sporadic EPOR 1453G->A...

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Identifiers

PMID: 17488692
DOI: 10.3324/haematol.10787

Genes

EPOR
JAK2

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.

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