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Article

Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis.

European journal of medical genetics - 1 Jun 2022

Echambadi Loganathan Samundeshwari, Kattaru Surekha, Chandrasekhar Chodimella, Vengamma B, Sarma Potukuchi Venkata Gurunadha Krishna

Abstract excerpt

Congenital Erythrocytosis (CE) can be primary or secondary due to the mutations in genes involved in the erythropoietin receptor and oxygen sensing pathway. In this study, 42 patients with 38 unrelated patients and one family (4 patients) who were JAK-2 mutation (both exon 12 and exon 14) negative with high haematocrit values were investigated. The Endogenous Erythroid colony (EEC) assay was performed in all...

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Identifiers

PMID: 35395428
DOI: 10.1016/j.ejmg.2022.104493

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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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