Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression

Transfusion. 2019 Oct;59(10):E8-E10. doi: 10.1111/trf.15411. Epub 2019 Jun 19.

Authors

Marea V E van der Rijst^{1

2}, Lesley Voorn³, Barbera Veldhuisen⁴, John M Jongerius³, Emile van den Akker¹, C Ellen van der Schoot²

Affiliations

¹ Department of Hematopoiesis, AUMC, Amsterdam, The Netherlands.
² Department of Experimental Immunohematology, Sanquin Research and Landsteiner Laboratory, AUMC, Amsterdam, The Netherlands.
³ Department of Research and Lab Services, National Screening Laboratory Sanquin, Sanquin, Amsterdam, The Netherlands.
⁴ Department of Immunohematology Diagnostic Services, Sanquin, Amsterdam, The Netherlands.

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Blood Group Antigens* / biosynthesis
Blood Group Antigens* / genetics
Female
Gene Expression Regulation*
Humans
Male
Membrane Proteins* / biosynthesis
Membrane Proteins* / genetics
Point Mutation*
Polymorphism, Single Nucleotide*

Substances

Blood Group Antigens
Membrane Proteins
SMIM1 protein, human