essential thrombocythaemia
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.
A single point mutation (Val617Phe) was identified in <span class="gene" id="15781101-7-54-58">JAK2</span> in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with <span class="disease" id="15781101-7-131-157">essential thrombocythaemia</span>, and eight (50%) of 16 with idiopathic myelofibrosis.