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MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization.
Sprenkeler EGG, Henriet SSV, Tool ATJ, Kreft IC, van der Bijl I, Aarts CEM, van Houdt M, Verkuijlen PJJH, van Aerde K, Jaspers G, van Heijst A, Koole W, Gardeitchik T, Geissler J, de Boer M, Tol S, Bruggeman CW, van Alphen FPJ, Verhagen HJMP, van den Akker E, Janssen H, van Bruggen R, van den Berg TK, Liem KD, Kuijpers TW. Sprenkeler EGG, et al. Among authors: de boer m. Blood. 2020 Jun 11;135(24):2171-2181. doi: 10.1182/blood.2019002633. Blood. 2020. PMID: 32128589 Free article.
Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.
van Bruggen R, Bautista JM, Petropoulou T, de Boer M, van Zwieten R, Gómez-Gallego F, Belohradsky BH, Hartwig NG, Stevens D, Mason PJ, Roos D. van Bruggen R, et al. Among authors: de boer m. Blood. 2002 Aug 1;100(3):1026-30. doi: 10.1182/blood.v100.3.1026. Blood. 2002. PMID: 12130518 Free article.
Molecular basis of glutathione reductase deficiency in human blood cells.
Kamerbeek NM, van Zwieten R, de Boer M, Morren G, Vuil H, Bannink N, Lincke C, Dolman KM, Becker K, Schirmer RH, Gromer S, Roos D. Kamerbeek NM, et al. Among authors: de boer m. Blood. 2007 Apr 15;109(8):3560-6. doi: 10.1182/blood-2006-08-042531. Epub 2006 Dec 21. Blood. 2007. PMID: 17185460 Free article.
LAD-1/variant syndrome is caused by mutations in FERMT3.
Kuijpers TW, van de Vijver E, Weterman MA, de Boer M, Tool AT, van den Berg TK, Moser M, Jakobs ME, Seeger K, Sanal O, Unal S, Cetin M, Roos D, Verhoeven AJ, Baas F. Kuijpers TW, et al. Among authors: de boer m. Blood. 2009 May 7;113(19):4740-6. doi: 10.1182/blood-2008-10-182154. Epub 2008 Dec 8. Blood. 2009. PMID: 19064721 Free article.
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D. van de Vijver E, et al. Among authors: de boer m. Blood Cells Mol Dis. 2012 Jan 15;48(1):53-61. doi: 10.1016/j.bcmd.2011.10.004. Epub 2011 Nov 30. Blood Cells Mol Dis. 2012. PMID: 22134107 Free PMC article. Review.
1,720 results