Congenital JAK2V617F polycythemia vera: Where does the genotype-phenotype diversity end?

Blood

Volumn 112, Issue 10, 2008, Pages 4356-4357

  Kelly, Kevin ^a   McMahon, Corrina ^a   Langabeer, Stephen ^a   Eliwan, Hassan ^a   O'Marcaigh, Aengus ^a   Smith, Owen P ^a  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; ERYTHROPOIETIN; JANUS KINASE 2; JAK2 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ALLOGENIC BONE MARROW TRANSPLANTATION; CASE REPORT; ERYTHROID CELL; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEMATOCRIT; HUMAN; INFANT; LETTER; LEUKOCYTE COUNT; LIVING DONOR; PHLEBOTOMY; POLYCYTHEMIA VERA; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; REMISSION; SIBLING; THROMBOCYTE COUNT; TONSILLITIS; AMINO ACID SUBSTITUTION; ENZYMOLOGY; GENETICS; METABOLISM; MISSENSE MUTATION;

AMINO ACID SUBSTITUTION; FEMALE; HUMANS; INFANT; JANUS KINASE 2; MUTATION, MISSENSE; POLYCYTHEMIA VERA;

EID: 58149172230     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-08-175620     Document Type: Letter

References (3)

1. Cario H, Schwarz K, Herter JM, et al. Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythaemia vera. Br J Haematol. 2008;142:623-626.
2. Bellanne-Chantelot C, Chaumarel I, Labopin M, et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood. 2006;108:346-352.
3. Cario H, Goerttler PS, Steimle C, et al. The JAK2V617F mutation is acquired secondary to the predisposing alteration in familial polycythaemia vera. Br J Haematol. 2005;130:800-801.