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Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera
BACKGROUND: Polycythemia vera (PV), characterized by massive production of erythrocytes, is one of the myeloproliferative neoplasms. Most patients carry a somatic gain-of-function mutation in JAK2, c.1849G > T (p.Val617Phe), leading to constitutive activation of JAK-STAT signaling pathway. Famili...
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| Publicado no: | Hum Genomics |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5397753/ https://ncbi.nlm.nih.gov/pubmed/28427458 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-017-0102-x |
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