Article
CBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2.
Haematologica - 1 Aug 2012
Aranaz Paula, Hurtado Cristina, Erquiaga Ignacio, Miguéliz Itziar, Ormazábal Cristina, Cristobal Ion, García-Delgado Marina, Novo Francisco Javier, Vizmanos José Luis
Abstract excerpt
BACKGROUND: Despite the discovery of the p.V617F in JAK2, the molecular pathogenesis of some chronic myeloproliferative neoplasms remains unclear. Although very rare, different studies have identified CBL (Cas-Br-Murine ecotropic retroviral transforming sequence) mutations in V617FJAK2-negative patients, mainly located in the RING finger domain. In order to determine the frequency of CBL mutations in these...
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