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

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Article

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

Experimental hematology - 1 May 1994

Sokol L, Prchal J F, D'Andrea A, Rado T A, Prchal J T

Abstract excerpt

A 42-year-old Caucasian male with sporadic primary polycythemia has been followed by us for 13 years. During the time of observation, his hemoglobin had been stable, and he has never had an elevated white count or platelet count or any other stigmata of polycythemia vera (PV). Both of his parents, his three children, and all siblings have been hematologically normal. The in vitro culture of erythroid progenitors...

Topics

Adult
Base Sequence
Blotting, Southern
Cells, Cultured
DNA
Erythrocytes
Erythroid Precursor Cells
Family Health
Gene Expression Regulation
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Phenotype

Polycythemia

Polycythemia Vera

Polymerase Chain Reaction

Receptors, Erythropoietin

Source

Open in PubMed

Identifiers

PMID: 8174675

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8174675-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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