About: Detection of Nijmegen Breakakge Syndrom (NBS) by DNA analysis among patients with malignancies     Goto   Sponge   NotDistinct   Permalink

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Description
  • Detection of 657de15 mutation of NBS1 gene in patients with malignancy for improvement of diagnosis,treatment and prevention of autosomal recessive inherited DNA repair disorder and hyperradiosensitivity NBS which predisposes to malignancies. Patients with malignancy,who are carrier of NBS1 gene mutation,must be treated with low doses of cytostatica and protect trom radiotherapy. (en)
  • Vyšetření mutace 657de15 v NBS1 genu v souboru pacientů s malignitami ke zdokonalení diagnostiky, léčby a prevence autosomálně recesivně dědičného syndromu chromosomální instability a hyperradiosensitivy NBS predisponující k malignitám.
Title
  • Detection of Nijmegen Breakakge Syndrom (NBS) by DNA analysis among patients with malignancies (en)
  • Detekce Nijmegen breakage syndromu mezi pacienty s malignitami přímou DNA analýzou
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  • NH6439
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  • Nijmegen breakage syndrome;DNA analysis;NBS1 gene;nibrin;657de15 (en)
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  • Výsledkem je diagnostická metoda s významným klinickým dopadem. (cs)
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  • nibrin
  • DNA analysis
  • NBS1 gene
  • Nijmegen breakage syndrome
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