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

Nature Genetics

Volumn 45, Issue 5, 2013, Pages 537-541

  Storry, Jill R ^a,b   Jöud, Magnus ^a,b   Christophersen, Mikael Kronborg ^a   Thuresson, Britt ^a,b   Åkerström, Bo ^a   Sojka, Birgitta Nilsson ^c   Nilsson, Björn ^a,b,d   Olsson, Martin L ^a,b  

^a LUND UNIVERSITY   (Sweden)

^b University and Regional Laboratories   (Sweden)

^c UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROCYTE ANTIGEN; MEMBRANE PROTEIN; POLYCLONAL ANTIBODY; UNCLASSIFIED DRUG; VEL ANTIGEN;

ANTIGEN EXPRESSION; ARTICLE; BLOOD DONOR; BLOOD GROUP; BLOOD GROUP SYSTEM; BONE MARROW CELL; CONSENSUS SEQUENCE; CONTROLLED STUDY; DIMERIZATION; ERYTHROCYTE; ERYTHROCYTE TRANSFUSION; ERYTHROPOIESIS; EXON; FLOW CYTOMETRY; GENE; GENE DELETION; GENE FREQUENCY; GENETIC TRANSFECTION; GENOTYPE; GLYCOSYLATION; HEME SYNTHESIS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN CELL; NONHUMAN; NULL ALLELE; OLIGOMERIZATION; PRIORITY JOURNAL; PROTEIN BLOTTING; PROTEIN EXPRESSION; RECIPIENT; SCREENING; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SMIM1 GENE;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BIOLOGICAL MARKERS; BLOOD GROUP ANTIGENS; ERYTHROCYTE MEMBRANE; ERYTHROCYTES; EXOME; FEMALE; FLOW CYTOMETRY; GENE DELETION; GENE EXPRESSION PROFILING; GENE REGULATORY NETWORKS; GENOME, HUMAN; HOMOZYGOTE; HUMANS; ISOANTIBODIES; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; RABBITS; SEQUENCE HOMOLOGY, AMINO ACID; ZEBRAFISH;

EID: 84878603453     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2600     Document Type: Article

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