About: Introduction of complex diagnostics of epidermolysis bullosa congenita in the Czech Republic     Goto   Sponge   NotDistinct   Permalink

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  • EBC is connected with mutations in 9 genes. For selection of a gene for mutation analysis, the complex diagnostic approach is needed. Aim of the project is the introduction of the EBC diagnostic model: clinical monitoring - electron microscopy - imunohistochemical analysis - DNA/mRNA analysis. (en)
  • EBC je spojena s mutacemi v 9 genech. Pro vytypování genu pro mutační analýzu je nutný komplexní přístup k dané problematice. Cílem projektu je zavedení diagnostického modelu: klinické sledování-elektronová mikroskopie-imunohistochemie-analýza DNA/mRNA. (cs)
Title
  • Zavedení komplexní diagnostiky epidermolysis bullosa congenita v ČR (cs)
  • Introduction of complex diagnostics of epidermolysis bullosa congenita in the Czech Republic (en)
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  • epidermolysis bullosa; EBS; EBD; EBJ; dermoepidermal junction; DHPLC; immunohistochemistry; keratinocyte (en)
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