Impact of genetic variation in the SMIM1 gene on Vel expression levels
Transfusion2015Vol. 55(6pt2), pp. 1457–1466
Citations Over TimeTop 10% of 2015 papers
Lonneke Haer‐Wigman, Tamara C. Stegmann, Shabnam Solati, Aïcha Ait Soussan, Erik A.M. Beckers, Pim van der Harst, Marga van Hulst‐Sundermeijer, Peter C. Ligthart, Dick van Rhenen, Hein Schepers, Masja de Haas, C. Ellen van der Schoot
Abstract
Weak Vel expression levels are caused by multiple genetic factors in SMIM1 and probably also by other genetic or environmental factors. Due to the variation in Vel expression levels, serologic determination of the Vel- phenotype is difficult and a genotyping assay targeting the c.64_80del deletion in SMIM1 should be used to screen donors for the Vel- phenotype.
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