A novel mutation of the erythropoietin receptor gene associated with primary familial and congenital polycythaemia

International Journal of Hematology

Volumn 93, Issue 4, 2011, Pages 542-544

  O'Rourke, Kacey ^a   Fairbairn, David J ^a   Jackson, Kathryn A ^a   Morris, Kirk L ^a   Tey, Siok Keen ^a   Kennedy, Glen A ^a  

^a ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

EPOR; Erythropoietin; PFCP; Polycythaemia

Indexed keywords

DNA; ERYTHROPOIETIN; ERYTHROPOIETIN RECEPTOR; HEMOGLOBIN; JANUS KINASE 2;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD CELL COUNT; BONE MARROW EXAMINATION; CASE REPORT; CEREBROVASCULAR DISEASE; CLINICAL EXAMINATION; CODON; DNA EXTRACTION; DOWN REGULATION; EXON; FAMILY HISTORY; FRAMESHIFT MUTATION; GENETIC SCREENING; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HUMAN; MALE; MUTATION; POLYCYTHEMIA; POLYMERASE CHAIN REACTION; PRIMARY FAMILIAL AND CONGENITAL POLYCYTHEMIA; RECEPTOR GENE;

FRAMESHIFT MUTATION; HUMANS; MALE; PEDIGREE; POLYCYTHEMIA; RECEPTORS, ERYTHROPOIETIN; YOUNG ADULT;

EID: 79955932181     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12185-011-0813-z     Document Type: Article

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