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Article

A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene.

Haematologica - 1 Jul 2008

Al-Sheikh Maha, Mazurier Elodie, Gardie Betty, Casadevall Nicole, Galactéros Frédéric, Goossens Michel, Wajcman Henri, Préhu Claude, Ugo Valérie

Abstract excerpt

Thirty-six unrelated cases with erythrocytosis of unknown origin were investigated. Exons 5-8 of the erythropoietin receptor gene (EPOR), the von Hippel-Lindau gene, and the prolyl hydroxylase domain protein 2 gene (PHD2) were screened by direct DNA sequencing. The Janus kinase 2 mutation, JAK2 (Val617Phe), was screened by allele specific PCR. In this study, three new mutations of EPOR causing deletions in exon 8...

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Share to Hypoxia-Inducible Factor-Proline Dioxygenases

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Source

Identifiers

PMID: 18492694
DOI: 10.3324/haematol.12260

Genes

EPOR
JAK2

Variants

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.

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