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- Title
correspondence Erythropoietin receptor defect: a cause of primary polycythaemia.
- Authors
Petersen, K. Brorson; Hokland, P.; Petersen, G. Bruun; Nyvold, C. Guldborg
- Abstract
Primary familial and congenital polycythaemia (PFCP) is a rare autosomal dominant inherited disorder with isolated proliferation of the erythroid progenitor cells leading to erythrocytosis. In some families the condition is caused by a genetic defect in the erythropoietin receptor (EPOR), which transmits the signal from erythropoietin to the erythroid progenitor cells. The majority of mutations found in EPOR lead to a truncation of the C-terminal part of the protein, which plays a key role in the modulation of the cell response to EPO stimulation.
- Subjects
ERYTHROPOIETIN; HEMATOPOIETIC growth factors; HEREDITY; ERYTHROCYTE disorders; BLOOD diseases; CELLS
- Publication
British Journal of Haematology, 2004, Vol 125, Issue 4, p537
- ISSN
0007-1048
- Publication type
Letter
- DOI
10.1111/j.1365-2141.2004.04931.x