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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. Among authors: watkins na. 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.
The low-frequency allele of the platelet collagen signaling receptor glycoprotein VI is associated with reduced functional responses and expression.
Joutsi-Korhonen L, Smethurst PA, Rankin A, Gray E, IJsseldijk M, Onley CM, Watkins NA, Williamson LM, Goodall AH, de Groot PG, Farndale RW, Ouwehand WH. Joutsi-Korhonen L, et al. Among authors: watkins na. Blood. 2003 Jun 1;101(11):4372-9. doi: 10.1182/blood-2002-08-2591. Epub 2003 Jan 30. Blood. 2003. PMID: 12560230 Free article.
Identification of the primary collagen-binding surface on human glycoprotein VI by site-directed mutagenesis and by a blocking phage antibody.
Smethurst PA, Joutsi-Korhonen L, O'Connor MN, Wilson E, Jennings NS, Garner SF, Zhang Y, Knight CG, Dafforn TR, Buckle A, IJsseldijk MJ, De Groot PG, Watkins NA, Farndale RW, Ouwehand WH. Smethurst PA, et al. Among authors: watkins na. Blood. 2004 Feb 1;103(3):903-11. doi: 10.1182/blood-2003-01-0308. Epub 2003 Sep 22. Blood. 2004. PMID: 14504096 Free article.
131 results