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Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.
Roos D, van Zwieten R, Wijnen JT, Gómez-Gallego F, de Boer M, Stevens D, Pronk-Admiraal CJ, de Rijk T, van Noorden CJ, Weening RS, Vulliamy TJ, Ploem JE, Mason PJ, Bautista JM, Khan PM, Beutler E. Roos D, et al. Among authors: bautista jm. Blood. 1999 Nov 1;94(9):2955-62. Blood. 1999. PMID: 10556177 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: bautista jm. Blood. 2002 Aug 1;100(3):1026-30. doi: 10.1182/blood.v100.3.1026. Blood. 2002. PMID: 12130518 Free article.
G6PD deficiency: the genotype-phenotype association.
Mason PJ, Bautista JM, Gilsanz F. Mason PJ, et al. Among authors: bautista jm. Blood Rev. 2007 Sep;21(5):267-83. doi: 10.1016/j.blre.2007.05.002. Epub 2007 Jul 3. Blood Rev. 2007. PMID: 17611006 Review.
Unproductive folding of the human G6PD-deficient variant A-.
Gómez-Gallego F, Garrido-Pertierra A, Mason PJ, Bautista JM. Gómez-Gallego F, et al. Among authors: bautista jm. FASEB J. 1996 Jan;10(1):153-8. doi: 10.1096/fasebj.10.1.8566536. FASEB J. 1996. PMID: 8566536
138 results