Erythropoietin receptor defect: A cause of primary polycythaemia [1]

British Journal of Haematology

Volumn 125, Issue 4, 2004, Pages 537-538

  Brorson Petersen, K ^a   Hokland, P ^b   Bruun Petersen, G ^a   Guldborg Nyvold, C ^b  

^a LILLEBAELT HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Erythrocytosis; Erythropoietin; Erythropoietin receptor mutation; Familial polycythaemia congenital polycythaemia

Indexed keywords

ERYTHROPOIETIN RECEPTOR;

CARBOXY TERMINAL SEQUENCE; ERYTHROCYTOSIS; ERYTHROID PRECURSOR CELL; GENE DELETION; GENE MUTATION; HUMAN; LETTER; OPEN READING FRAME; POLYCYTHEMIA VERA; PRIORITY JOURNAL; STOP CODON;

ADULT; CODON, TERMINATOR; FEMALE; GENE DELETION; HUMANS; INFANT; MALE; MIDDLE AGED; POLYCYTHEMIA; POLYMERASE CHAIN REACTION; RECEPTORS, ERYTHROPOIETIN;

EID: 3142777320     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.04931.x     Document Type: Letter

References (6)

1. Arcasoy, M.O., Karayal, A.F., Segal, H.M., Sinning, J.G. & Forget, B.C. (2002) A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. Blood, 99, 3066-3069.
2. Kralovics, R. & Prchal, J.T. (2000) Congenital and inherited polycythemia. Current Opinion in Pediatrics, 12, 29-34.
3. Kralovics, R., Indrak, K., Stopka, T., Herman, B.W., Prchal, J.F. & Prchal, J.T. (1997) Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias. Blood, 90, 2057-2061.
4. Nyvold, C., Madsen, H.O., Ryder, L.P., Seyfarth, J., Engel, C.A., Svejgaard, A., Wesenberg, F. & Schmiegelow, K. (2000) Competitive PCR for quantification of minimal residual disease in acute lymphoblastic leukaemia. Journal of Immunological Methods, 233, 107-118.
5. Rychlik, W. (1998) Oligo. Primer Analysis Software. Molecular Biology Insights, Inc., Cascade, CO, USA.
6. Watowich, S.S., Xie, X., Klingmuller, U., Kere, J., Lindlof, M., Berglund, S. & de la Chapelle, A. (1999) Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. Blood, 94, 2530-2532.