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Article

Familial erythrocytosis genetically linked to erythropoietin receptor gene.

Lancet (London, England) - 9 Jan 1993

de la Chapelle A, Sistonen P, Lehväslaiho H, Ikkala E, Juvonen E

Abstract excerpt

Familial erythrocytosis is heterogeneous with diverse causes. Using a highly informative, simple sequence repeat polymorphism in the 5' region of the erythropoietin receptor gene (EPOR), we did linkage analysis in a large family whose clinical and genealogical features were known. There were no recombinations between the disease phenotype and the polymorphism, the logarithm of odds score for linkage at zero...

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Share to Base Sequence
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Share to Molecular Sequence Data

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

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Share to Polymorphism, Genetic

Share to Receptors, Erythropoietin

Source

Identifiers

PMID: 8093406
DOI: 10.1016/0140-6736(93)92558-b

Genes

EPOR

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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