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JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
Linda M Scott
1 ,
Wei Tong ,
Ross L Levine ,
Mike A Scott ,
Philip A Beer ,
Michael R Stratton ,
P Andrew Futreal ,
Wendy N Erber ,
Mary Frances McMullin ,
Claire N Harrison ,
Alan J Warren ,
D Gary Gilliland ,
Harvey F Lodish ,
Anthony R Green
Feb 01 2007
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Abstract
The V617F mutation, which causes the substitution of phenylalanine for valine at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis. However, the molecular basis of these myeloproliferative disorders in patients without the V617F mutation is unclear.