About: Screening of mutations in the non-duplicated region of the PKD1 gene from families with autosomal dominant polycystic kidney disease     Goto   Sponge   NotDistinct   Permalink

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Description
  • Mutační analýza neduplikované oblasti genu PKD1 ve vybraném souboru rodin s ADPKD pomocí screeningových metod (SSCP,HA,DGGE) a následná sekvenační analýza fragmentů s pozitivním nálezem. Studium vztahů mezi genotypem a klinickými projevy onemocnění. (cs)
  • Analysis of mutations in non-duplicated region of the PKD1 gene in selected families with ADPKD by screening methods (SSCP,HA,DGGE) and following sequencing of positive fragments. (en)
Title
  • Záchyt mutací v neduplikované oblasti genu PKD1 v rodinách s autosomálně dominantně dědičnou polycystickou chorobou ledvin (cs)
  • Screening of mutations in the non-duplicated region of the PKD1 gene from families with autosomal dominant polycystic kidney disease (en)
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  • ADPKD;screening of mutations;PKD1 gene;DNA;seqenation;diagnosis;phenotype;genotype (en)
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