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Can I read Erythrocytosis Due to a Mutation in the Erythropoietin Receptor Gene on EtoBox?
Erythrocytosis Due to a Mutation in the Erythropoietin Receptor Gene by Melanie J. Percy; Mary Frances McMullin; Anthony W. W. Roques; Nigel B. Westwood; Jay Acharya; Anne E. Hughes; Terence R. J. Lappin; Thomas C. Pearson is a Medicine article available to read on EtoBox.
What is Erythrocytosis Due to a Mutation in the Erythropoietin Receptor Gene about?
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.
Who reads Erythrocytosis Due to a Mutation in the Erythropoietin Receptor Gene?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Melanie J. Percy; Mary Frances McMullin; Anthony W. W. Roques; Nigel B. Westwood; Jay Acharya; Anne E. Hughes; Terence R. J. Lappin; Thomas C. Pearson
- Publisher
- John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0007-1048)
- Published
- 1998
- Language
- EN
- Field
- Medicine (Health Sciences)