| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
JAK2 V617F prevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia
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| Autores: |
Monte-Mór,Bárbara da Costa Reis
Cunha,Anderson Ferreira da
Pagnano,Kátia Bórgia Barbosa
Saad,Sara Terezinha
Lorand-Metze,Irene
Costa,Fernando Ferreira
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| Data: |
2007-03-01
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| Ano: |
2007
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| Palavras-chave: |
JAK2 V617F
Myeloproliferative disorders
Polycythemia vera
Idiopathic myelofibrosis
Essential thrombocythemia
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| Resumo: |
Polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) are myeloproliferative disorders (MPD) that arise from the clonal proliferation of a pluripotent hematopoietic progenitor, leading to the overproduction of one or more myeloid lineages. Recently, a specific mutation in the JAK2 gene, which encodes a tyrosine kinase, has been shown to be associated with the myeloproliferative phenotype observed in PV, ET and IMF. In this study of Brazilian patients, the JAK2 V617F mutation [c.1887G > T) was detected in four out of 49 patients with PV (96%), 14 out of 25 patients with IMF (56%), and in eight out of 29 patients with ET, which is in accordance with previous screenings of this mutation in other populations.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300006
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572007000300006
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.30 n.2 2007
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| Direitos: |
info:eu-repo/semantics/openAccess
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