Article
SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation.
Transfusion - 1 Jan 2021
van der Rijst Marea V E, Abay Asena, Aglialoro Francesca, van der Schoot C Ellen, van den Akker Emile
Abstract excerpt
BACKGROUND: Vel expression on erythrocytes is variable due to polymorphisms, complicating Vel typing. Weak Vel expression can be caused by mutations within SMIM1 in a heterozygous setting, suggesting a dominant negative effect of SMIM1 mutants on wild type (wt)SMIM1 expression. Here we report how SMIM1 expression is regulated during erythropoiesis, to understand its variable expression on erythrocytes. STUDY...
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