SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression-Reference-Cited by-同舟云学术

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SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression

Published:2017-01-13 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Christophersen Mikael K.,Jöud Magnus,Ajore Ram,Vege Sunitha,Ljungdahl Klara W.,Westhoff Connie M.,Olsson Martin L.,Storry Jill R.,Nilsson Björn

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep40451.pdf

Reference23 articles.

1. Storry, J. R. et al. Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype. Nat Genet 45, 537–541, doi: 10.1038/ng.2600 (2013).

2. Cvejic, A. et al. SMIM1 underlies the Vel blood group and influences red blood cell traits. Nat Genet 45, 542–545, doi: 10.1038/ng.2603 (2013).

3. Ballif, B. A. et al. Disruption of SMIM1 causes the Vel- blood type. EMBO Mol Med 5, 751–761, doi: 10.1002/emmm.201302466 (2013).

4. van der Harst, P. et al. Seventy-five genetic loci influencing the human red blood cell. Nature 492, 369–375, doi: 10.1038/nature11677 (2012).

5. Haer-Wigman, L. et al. Impact of genetic variation in the SMIM1 gene on Vel expression levels. Transfusion 55, 1457–1466, doi: 10.1111/trf.13014 (2015).

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