SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation
Transfusion2020Vol. 61(1), pp. 236–245
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Marea V.E. van der Rijst, Asena Abay, Francesca Aglialoro, C. Ellen van der Schoot, Emile van den Akker
Abstract
These results suggest that SMIM1 mutations exert a dominant negative effect on wtSMIM1 probably by affecting SMIM1 multimerization and thereby Vel epitope presentation at the latest stages of erythroid differentiation.
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