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Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.
Van Zwieten R, François JJ, Van Leeuwen K, Van Wesel AC, Van Bruggen R, Van Solinge WW, Roos D, Verhoeven AJ, Van Wijk R. Van Zwieten R, et al. Among authors: roos d. Am J Hematol. 2013 Feb;88(2):159-60. doi: 10.1002/ajh.23363. Epub 2012 Dec 17. Am J Hematol. 2013. PMID: 23255290 Free article. No abstract available.
Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients.
Wolach B, Gavrieli R, de Boer M, van Leeuwen K, Berger-Achituv S, Stauber T, Ben Ari J, Rottem M, Schlesinger Y, Grisaru-Soen G, Abuzaitoun O, Marcus N, Zion Garty B, Broides A, Levy J, Stepansky P, Etzioni A, Somech R, Roos D. Wolach B, et al. Among authors: roos d. Am J Hematol. 2017 Jan;92(1):28-36. doi: 10.1002/ajh.24573. Epub 2016 Nov 18. Am J Hematol. 2017. PMID: 27701760 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: roos d. Blood. 2002 Aug 1;100(3):1026-30. doi: 10.1182/blood.v100.3.1026. Blood. 2002. PMID: 12130518 Free article.
963 results