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  • R. Dobrovolný, L. Dvorakova, +7 authors M. Hřebíček
  • Medicine, Biology
  • Journal of Molecular Medicine
  • 2005 (First Publication: 1 August 2005)
  • We have identified 21 different α-galactosidase A gene (GLA) mutations in 22 unrelated Czech and Slovak families with Fabry disease. Eleven of these mutations were novel (point mutations D93N, A135V,Expand
  • Marie Jáchymová, K. Horký, +4 authors P Martasek
  • Biology, Medicine
  • Biochemical and biophysical research…
  • 2001 (First Publication: 1 June 2001)
  • Endothelial nitric oxide synthase (eNOS) produces nitric oxide (NO) which, after diffusing into vascular smooth muscle cells, activates guanylate cyclase leading to vasodilatation. A polymorphismExpand