. "DNA" . "2003-07-31+02:00"^^ . "ADPKD;screening of mutations;PKD2 gene;DNA;sequenation;diagnosis;phenotype;genotype"@en . . . . "Screening of mutations in the PKD2 gene from families with autosomal dominant polycystic kidney disease."@en . "screening of mutations" . "diagnosis" . "0"^^ . . . "NE5996" . . "sequenation" . . "Muta\u010Dn\u00ED anal\u00FDza genu PKD2 ve vybran\u00E9m souboru rodin s ADPKD pomoc\u00ED screeningov\u00FDch metod (SSCP,HA,DGGE) a n\u00E1sledn\u00E1 sekven\u010Dn\u00ED anal\u00FDza fragmentu s pozitivn\u00EDm n\u00E1lezem.Studium vztah\u016F mezi genotypem a klinick\u00FDmi projevy onemocn\u011Bn\u00ED. Muta\u010Dn\u00ED anal\u00FDza genu PKD2 jejedinou sou\u010Dasn\u011B dostupnou metodou p\u0159i diferenci\u00E1ln\u011B diagnostick\u00E9 anal\u00FDze ADPKD rodin,ve kter\u00FDch nebyla jednozna\u010Dn\u011B prok\u00E1z\u00E1na vazba onemocn\u011Bn\u00ED na gen PKD1." . "1"^^ . . "PKD2 gene" . . . "1"^^ . "Analysis of mutations in PKD2 gene in selected families with ADPKD by screening methods (SSCP,HA,DGGE) and following sequenation of positive fragments. Analysis of mutations in PKD2 gene is the only temporary available method in diferentialdiagnostic analysis in affected families,in which the linkage on PKD1 gene is not demonsrable."@en . . "Z\u00E1chyt mutac\u00ED v genu PKD2 v rodin\u00E1ch s autozom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dnou polycystickou chorobou ledvin." . "Auto\u0159i objevili celkem 6 dosud nepopsan\u00FDch mutac\u00ED genu mapovan\u00E9ho na 4. chromosom. Identifikace PKD2 m\u00E1 praktick\u00FD v\u00FDznam, proto\u017Ee tento typ ADPKD m\u00E1 lep\u0161\u00ED prognozu. Human Mutation (IF 6,134)."@cs . . "ADPKD" . "7"^^ . . . "7"^^ . "http://www.isvav.cz/projectDetail.do?rowId=NE5996"^^ . "phenotype" . . .