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Erythrocytosis due to a mutation in the erythropoietin receptor gene

Percy, MJ; McMullin, MF; Roques, AWW; Westwood, NB; Acharya, J; Hughes, AE; ... Pearson, TC; + view all (1998) Erythrocytosis due to a mutation in the erythropoietin receptor gene. BRIT J HAEMATOL , 100 (2) 407 - 410.

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Abstract

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 at nucleotide 6002. This mutation resulted in the formation of a stop codon at amino acid 439 with the loss of 70 amino acids from the carboxy terminus. The mutation (G6002A) has arisen independently in a Finnish family and de novo in this English boy. Patients with unexplained erythrocytosis and low serum Epo levels should be investigated for EpoR mutations.

Type:Article
Title:Erythrocytosis due to a mutation in the erythropoietin receptor gene
Keywords:erythrocytosis, erythropoietin receptor, ERYTHROID PROGENITORS, POLYCYTHEMIA
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

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