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Characterization of the -148C>T promoter polymorphism in PKLR.
de Vooght KM, van Wijk R, van Wesel AC, van Solinge WW. de Vooght KM, et al. Among authors: van wesel ac, van wijk r, van solinge ww. Haematologica. 2008 Sep;93(9):1407-8. doi: 10.3324/haematol.12328. Epub 2008 Aug 12. Haematologica. 2008. PMID: 18698090 Free article. No abstract available.
Management of gene promoter mutations in molecular diagnostics.
de Vooght KM, van Wijk R, van Solinge WW. de Vooght KM, et al. Among authors: van wijk r, van solinge ww. Clin Chem. 2009 Apr;55(4):698-708. doi: 10.1373/clinchem.2008.120931. Epub 2009 Feb 26. Clin Chem. 2009. PMID: 19246615 Review.
Gene promoter analysis in molecular diagnostics: do or don't?
de Vooght KM, van Solinge WW. de Vooght KM, et al. Among authors: van solinge ww. Expert Rev Mol Diagn. 2009 Jul;9(5):403-5. doi: 10.1586/erm.09.28. Expert Rev Mol Diagn. 2009. PMID: 19580424 Review. No abstract available.
First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis.
de Vooght KM, van Solinge WW, van Wesel AC, Kersting S, van Wijk R. de Vooght KM, et al. Among authors: van wesel ac, van wijk r, van solinge ww. Haematologica. 2009 Sep;94(9):1203-10. doi: 10.3324/haematol.2008.002881. Epub 2009 Jul 16. Haematologica. 2009. PMID: 19608687 Free PMC article.
206 results