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Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype.
Nat Genet. 2013 May;45(5):537-41. doi: 10.1038/ng.2600. Epub 2013 Apr 7.
Nat Genet. 2013.
PMID: 23563606
SMIM1 underlies the Vel blood group and influences red blood cell traits.
Cvejic A, Haer-Wigman L, Stephens JC, Kostadima M, Smethurst PA, Frontini M, van den Akker E, Bertone P, Bielczyk-Maczyńska E, Farrow S, Fehrmann RS, Gray A, de Haas M, Haver VG, Jordan G, Karjalainen J, Kerstens HH, Kiddle G, Lloyd-Jones H, Needs M, Poole J, Soussan AA, Rendon A, Rieneck K, Sambrook JG, Schepers H, Silljé HHW, Sipos B, Swinkels D, Tamuri AU, Verweij N, Watkins NA, Westra HJ, Stemple D, Franke L, Soranzo N, Stunnenberg HG, Goldman N, van der Harst P, van der Schoot CE, Ouwehand WH, Albers CA.
Cvejic A, et al.
Nat Genet. 2013 May;45(5):542-545. doi: 10.1038/ng.2603. Epub 2013 Apr 7.
Nat Genet. 2013.
PMID: 23563608
Free PMC article.
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Disruption of SMIM1 causes the Vel- blood type.
Ballif BA, Helias V, Peyrard T, Menanteau C, Saison C, Lucien N, Bourgouin S, Le Gall M, Cartron JP, Arnaud L.
Ballif BA, et al.
EMBO Mol Med. 2013 May;5(5):751-61. doi: 10.1002/emmm.201302466. Epub 2013 Apr 15.
EMBO Mol Med. 2013.
PMID: 23505126
Free PMC article.
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