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Article

Erythrocytosis due to a mutation in the erythropoietin receptor gene.

British journal of haematology - 1 Feb 1998

Percy M J, McMullin M F, Roques A W, Westwood N B, Acharya J, Hughes A E, Lappin T R, Pearson T C

Abstract excerpt

Familial erythrocytosis, associated with high haemoglobin levels and low serum erythropoietin (Epo), has been shown to co-segregate with a sequence repeat polymorphism at the 5' region of the erythropoietin receptor (EpoR) in a large Finnish family. We have investigated the cause of erythrocytosis in an English boy. Sequencing of the cytoplasmic region of the EpoR detected a de novo transition mutation of G to A...

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Identifiers

PMID: 9488636
DOI: 10.1046/j.1365-2141.1998.00550.x

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