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

The Vel blood group antigen is expressed on the red blood cells of most individuals. Recently, we described that homozygosity for inactivating mutations in SMIM1 defines the rare Vel-negative phenotype. Still, Vel-positive individuals show great variability in Vel antigen expression, creating a risk...

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Detalles Bibliográficos
Autores principales: Christophersen, Mikael K., Jöud, Magnus, Ajore, Ram, Vege, Sunitha, Ljungdahl, Klara W., Westhoff, Connie M., Olsson, Martin L., Storry, Jill R., Nilsson, Björn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233989/
https://www.ncbi.nlm.nih.gov/pubmed/28084402
http://dx.doi.org/10.1038/srep40451

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233989/
https://www.ncbi.nlm.nih.gov/pubmed/28084402
http://dx.doi.org/10.1038/srep40451

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