Identification of a novel single‐nucleotide mutation in SMIM1 gene that results in low Vel antigen expression-Reference-Cited by-同舟云学术

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

Published:2019-06-19 Issue:10 Volume:59 Page:
ISSN:0041-1132
Container-title:Transfusion
language:en
Short-container-title:Transfusion

Author:

Rijst Marea V.E.¹²^ORCID,Voorn Lesley³,Veldhuisen Barbera⁴,Jongerius John M.³,Akker Emile¹,Schoot C. Ellen²

Affiliation:

1. Department of HematopoiesisAUMC Amsterdam The Netherlands

2. Department of Experimental ImmunohematologySanquin Research and Landsteiner Laboratory, AUMC Amsterdam The Netherlands

3. Department of Research and Lab Services, National Screening Laboratory SanquinSanquin Amsterdam The Netherlands

4. Department of Immunohematology Diagnostic ServicesSanquin Amsterdam The Netherlands

Publisher

Wiley

Subject

Hematology,Immunology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/trf.15411

Reference5 articles.

1. SMIM1 underlies the Vel blood group and influences red blood cell traits

2. Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype

3. Disruption of SMIM1 causes the Vel− blood type

4. Impact of genetic variation in theSMIM1gene on Vel expression levels

5. Development of a recombinant anti-Vel immunoglobulin M to identify Vel-negative donors

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation;Transfusion;2020-10-30

2. Dimerization of small integral membrane protein 1 promotes cell surface presentation of the Vel blood group epitope;FEBS Letters;2020-01-14

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