Article
Impact of genetic variation in the SMIM1 gene on Vel expression levels.
Transfusion - 1 Jun 2015
Haer-Wigman Lonneke, Stegmann Tamara C, Solati Shabnam, Ait Soussan Aïcha, Beckers Erik, van der Harst Pim, van Hulst-Sundermeijer Marga, Ligthart Peter, van Rhenen Dick, Schepers Hein, de Haas Masja, van der Schoot C Ellen
Abstract excerpt
BACKGROUND: Serologic determination of the Vel- phenotype is challenging due to variable Vel expression levels. In this study we investigated the genetic basis for weak Vel expression levels and developed a high-throughput genotyping assay to detect Vel- donors. STUDY DESIGN AND METHODS: In 548 random Caucasian and 107 Vel+(w) donors genetic variation in the SMIM1 gene was studied and correlated to Vel expression...
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