SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume

Genome-wide association studies have identified a genetic variant at 3p14.3 (SNP rs1354034) that strongly associates with platelet number and mean platelet volume in humans. While originally proposed to be intronic, analysis of mRNA expression in primary human hematopoietic subpopulations reveals th...

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Detalles Bibliográficos
Autores principales: Zou, Siying, Teixeira, Alexandra M., Kostadima, Myrto, Astle, William J., Radhakrishnan, Aparna, Simon, Lukas Mikolaj, Truman, Lucy, Fang, Jennifer S., Hwa, John, Zhang, Ping-xia, van der Harst, Pim, Bray, Paul F., Ouwehand, Willem H., Frontini, Mattia, Krause, Diane S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441597/
https://www.ncbi.nlm.nih.gov/pubmed/28542600
http://dx.doi.org/10.1371/journal.pone.0178095

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