Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera

Abstract 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...

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Bibliographic Details
Main Authors: Elina A. M. Hirvonen, Esa Pitkänen, Kari Hemminki, Lauri A. Aaltonen, Outi Kilpivaara
Format: Article
Language:English
Published: BioMed Central 2017-04-01
Series:Human Genomics
Subjects:
Myeloproliferative neoplasm
Polycythemia vera
Genetics
Exome sequencing
Familial predisposition
Online Access:http://link.springer.com/article/10.1186/s40246-017-0102-x

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http://link.springer.com/article/10.1186/s40246-017-0102-x

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