"2012-04-01+02:00"^^ . . " DNA" . . . "NT13090" . . " fibrocystin/polyductin" . . . "Sequence variants of the PKHD1 gene in patients with autosomal recessive polycystic kidney disease by next generation sequencing technology"@en . "2015-12-31+01:00"^^ . . " PKHD1 gene" . . "0"^^ . "Sekven\u010Dn\u00ED varianty genu PKHD1 u pacient\u016F s autozom\u00E1ln\u011B recesivn\u00ED polycystickou chorobou ledvin s vyu\u017Eit\u00EDm technologie sekvenov\u00E1n\u00ED nov\u00E9 generace" . "http://www.isvav.cz/projectDetail.do?rowId=NT13090"^^ . "1"^^ . "0"^^ . . "ARPKD; PKHD1 gene; fibrocystin/polyductin; DNA; mutations; next generation sequencing; genotype-phenotype"@en . . "0"^^ . . . "Utilization of technology of next generation sequencing and other molecular genetic methods for PKHD1 gene analysis in patients with autosomal recessive polycystic kidney disease. Genotype-phenotype correlation. Establishment of molecular genetic diagnosis of ARPKD for Czech patients in defined cases and introduction of limits of this diagnosis."@en . "0"^^ . . . " next generation sequencing" . " mutations" . . "2015-01-22+01:00"^^ . "Vyu\u017Eit\u00ED technologie sekvenov\u00E1n\u00ED nov\u00E9 generace a dal\u0161\u00EDch molekul\u00E1rn\u011B-genetick\u00FDch metod k anal\u00FDze genu PKHD1 v souboru pacient\u016F s autozom\u00E1ln\u011B recesivn\u00ED polycystickou chorobou ledvin (ARPKD) a p\u0159ena\u0161e\u010D\u016F mutantn\u00EDch alel uveden\u00E9ho genu. Studium vztah\u016F mezi stanoven\u00FDm genotypem a klinick\u00FDmi projevy onemocn\u011Bn\u00ED. Zaveden\u00ED molekul\u00E1rn\u011B genetick\u00E9 diagnostiky pro \u010Desk\u00E9 pacienty s ARPKD a stanoven\u00ED podm\u00EDnek a limit\u016F tohoto vy\u0161et\u0159en\u00ED." . . . "ARPKD" . . "2014-03-21+01:00"^^ .