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Novel mutations in the EPO-R, VHL and EPAS1 genes in the Congenital Erythrocytosis patients.

Blood cells, molecules & diseases - 1 Nov 2020

Chandrasekhar Chodimella, Pasupuleti Santhosh Kumar, Sarma Potukuchi Venkata Gurunadha Krishna

Abstract excerpt

Congenital erythrocytosis (CE) can be classified as primary and secondary and 82 consecutive patients of erythrocytosis who were JAK-2 mutation negative, were further investigated. The genomic DNA was extracted from all the patients and the EPO-R, VHL, EGLN1 and EPAS1 genes were PCR amplified and sequenced. The sequence analysis showed (28/82) 34.14% patients had mutations. Among them, (19/28) 67.86% patients had...

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Identifiers

PMID: 32739800
DOI: 10.1016/j.bcmd.2020.102479

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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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