Article
Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.
Human genomics - 20 Apr 2017
Hirvonen Elina A M, Pitkänen Esa, Hemminki Kari, Aaltonen Lauri A, Kilpivaara Outi
Abstract excerpt
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. Familial clustering is also observed occasionally, but high-penetrance predisposition genes to PV have remained unidentified....
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