. "DNA" . "In mutation analysis of the non-duplicated region of the PKD1gene in 90families withADPKDwe detected 21mutations:8nonsense,6missense,3frameshifting+4 in splice site.16mutations are unique for Czech Republic."@en . . "Screening of mutations in the non-duplicated region of the PKD1 gene from families with autosomal dominant polycystic kidney disease"@en . . "ADPKD" . . . . . . . . . . "Muta\u010Dn\u00ED anal\u00FDza neduplikovan\u00E9 oblasti genu PKD1 ve vybran\u00E9m souboru rodin s ADPKD pomoc\u00ED screeningov\u00FDch metod (SSCP,HA,DGGE) a n\u00E1sledn\u00E1 sekvena\u010Dn\u00ED anal\u00FDza fragment\u016F s pozitivn\u00EDm n\u00E1lezem. Studium vztah\u016F mezi genotypem a klinick\u00FDmi projevy onemocn\u011Bn\u00ED." . . "screening of mutations" . . "2006-06-23+02:00"^^ . . "NE7633" . "PKD1 gene" . . "ADPKD;screening of mutations;PKD1 gene;DNA;seqenation;diagnosis;phenotype;genotype"@en . "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 . "http://www.isvav.cz/projectDetail.do?rowId=NE7633"^^ . . "0"^^ . "1"^^ . "seqenation" . "phenotype" . . "Z\u00E1chyt mutac\u00ED v neduplikovan\u00E9 oblasti genu PKD1 v rodin\u00E1ch s autosom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dnou polycystickou chorobou ledvin" . "1"^^ . . "diagnosis" . "4"^^ . "4"^^ . . "Muta\u010Dn\u00ED anal\u00FDzou neduplik.oblasti genu PKD1 v souboru 90nep\u0159\u00EDbuz.proband\u016F s ADPKD bylo detekov\u00E1no 21mutac\u00ED:8nonsense,6missense,3posunov\u00E9,4m\u011Bn\u00EDc\u00ED m\u00EDsto st\u0159ihu.Z detek.mutac\u00ED je 16 unik\u00E1tn\u00EDch pro pacienty z \u010CR."@cs . .