About: Inherited thrombocytopenias caused by mutations in the gene (MYH9) encoding nonmuscle myosin     Goto   Sponge   NotDistinct   Permalink

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Description
  • In our study we will focus on DNA and protein analysis and correlation between mutations and clinical manifestations in patients with MYH9-related disorders. (en)
  • V této studii se zaměříme na DNA a proteinovou analýzu a na souvislost mezi mutacemi v genu MYH9 a klinickými projevy u pacientů s %22MYH9 onemocnením%22.
Title
  • Inherited thrombocytopenias caused by mutations in the gene (MYH9) encoding nonmuscle myosin (en)
  • Familiární trombocytopenie způsobené genetickou poruchou nesvalového myosinu (MYH9)
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  • NR8762
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  • blood platelets; MYH9-related disorders; leukocyte inclusions; May-Hegglin anomaly; Fechtner syndrome; Sebastian syndrome; Epstein syndrome; nonmuscle myosin (en)
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  • Komplexní diagnostika MyH9 pacientů s pomocí skenování DNA mutací bez potřeby přímého sekvenování: vysoce rozlišovací melthing analysis (HRMA). Na základě výsledků těchto vyšetření nemusí pacienti absolvovat neúspěšné léčení nedoslýchavosti. (cs)
  • Complete diagnosis MyH9 pacients with help of new method which has been introduced for scanning DNA mutations: high-resolution melting analysis (HRMA). (en)
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  • blood platelets
  • Epstein syndrome
  • Fechtner syndrome
  • MYH9-related disorders
  • May-Hegglin anomaly
  • Sebastian syndrome
  • leukocyte inclusions
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