About: New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease

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About: New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. The disease is caused by mutations of the PKD1and PKD2 genes. Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen new probable mutations) were detected. The establishment of localization and the type of causal mutations and their genotype phenotype correlation in ADPKD families will improve DNA diagnosis and could help in the assessment of the clinical prognosis of ADPKD patients. Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. The disease is caused by mutations of the PKD1and PKD2 genes. Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen new probable mutations) were detected. The establishment of localization and the type of causal mutations and their genotype phenotype correlation in ADPKD families will improve DNA diagnosis and could help in the assessment of the clinical prognosis of ADPKD patients. (en)
Title	New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease (en)
skos:prefLabel	New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease (en)
skos:notation	RIV/00216208:11110/09:4879!RIV10-MZ0-11110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NR9427), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	78 art. nu
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Merta, Miroslav Štekrová, Jitka Reiterová, Jana Lněnička, Petr Viklický, Ondřej Kebrdlová, Věra Kohoutová, Milada
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	329428
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/09:4879
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	muations; PKD1 gene; autosomal dominant polycystic kidney disease (en)
http://linked.open.../riv/klicoveSlovo	PKD1 gene autosomal dominant polycystic kidney disease muations
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[2E79CE8467CD]
http://linked.open...i/riv/nazevZdroje	BMC Medical Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	7 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Screening of mutations in the duplicated region of the PKD1 gene from families with autosomal dominant polycystic kidney disease
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	10
http://linked.open...iv/tvurceVysledku	Kebrdlová, Věra Lněnička, Petr Merta, Miroslav Viklický, Ondřej Štekrová, Jitka Reiterová, Jana Kohoutová, Milada Svobodova, S.
http://linked.open...ain/vavai/riv/wos	000269563900001
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	1471-2350
number of pages	10 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease

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