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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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genomics
Auteurs principaux: Hirvonen, Elina A. M., Pitkänen, Esa, Hemminki, Kari, Aaltonen, Lauri A., Kilpivaara, Outi
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2017
Sujets:
Primary Research
Accès en ligne: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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