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DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negat...

Azevedo, Ana P; Silva, Susana N; de Lima, João P; Reichert, Alice; Lima, Fernando; Júnior, Esmeraldina; Rueff, Jose

The authors gratefully acknowledge all patients and controls who generously participated in the present study. Our appreciation and thanks are extended to laboratory technicians, Mrs. Luisa Manso Oliveira, Mrs. Silvia Morgado Amaro and Miss Ines Sousa, (Department of Clinical Pathology, Hospital de Sao Francisco Xavier, Centro Hospitalar de Lisboa Ocidental) for their expert technical assistance. The present st...


Prevalence of the Janus kinase 2 V617F mutation in Philadelphia‑negative myelop...

Azevedo, Ana Paula; Silva, Susana; Reichert, Alice; Lima, Fernando; Júnior, Esmeraldina; Rueff, Jose

Myeloproliferative neoplasms (MPNs) result from the malignant transformation of a hematopoietic stem‑cell (HSC), leading to abnormal amplification and proliferation of myeloid lineages. Identification of the Janus kinase 2 (JAK2) V617F mutation developed the knowledge of Philadelphia‑negative (PN)‑MPNs, contributing to and influencing the definition of the phenotype and prognostic impact. Considering the lack o...


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