About: Genomic characterization of large rearrangements of the LDLR gene in Czech patiens with familial hypercholesterolemia

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About: Genomic characterization of large rearrangements of the LDLR gene in Czech patiens with familial hypercholesterolemia Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://www.biomedcentral.com/1471-2350/11/115
Description	Mutations in the LDLR gene are the most frequent cause of Familial hypercholesterolemia, an autosomal dominant disease characterised by elevated concentrations of LDL in blood plasma. In many populations, large genomic rearrangements account for approximately 10% of mutations in the LDLR gene Mutations in the LDLR gene are the most frequent cause of Familial hypercholesterolemia, an autosomal dominant disease characterised by elevated concentrations of LDL in blood plasma. In many populations, large genomic rearrangements account for approximately 10% of mutations in the LDLR gene (en)
Title	Genomic characterization of large rearrangements of the LDLR gene in Czech patiens with familial hypercholesterolemia Genomic characterization of large rearrangements of the LDLR gene in Czech patiens with familial hypercholesterolemia (en)
skos:prefLabel	Genomic characterization of large rearrangements of the LDLR gene in Czech patiens with familial hypercholesterolemia Genomic characterization of large rearrangements of the LDLR gene in Czech patiens with familial hypercholesterolemia (en)
skos:notation	RIV/00159816:_____/10:#0000604!RIV12-MZ0-00159816
http://linked.open...avai/riv/aktivita	P S V Z
http://linked.open...avai/riv/aktivity	P(2B08060), P(LC06023), S, V, Z(MSM0021622415)
http://linked.open...iv/cisloPeriodika	115
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Soška, Vladimír
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	Fakultní nemocnice u sv.Anny v Brně
http://linked.open...dnocenehoVysledku	260478
http://linked.open...ai/riv/idVysledku	RIV/00159816:_____/10:#0000604
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	LDLR, familial hypercholesterolemia (en)
http://linked.open.../riv/klicoveSlovo	familial hypercholesterolemia LDLR
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[E1C438CBA9CB]
http://linked.open...i/riv/nazevZdroje	BMC Medical Genetics
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Integrated bioanalytical technologies for microanalyses and diagnostics with laser induced fluorescence and mass spectrometry coupling. Development of diagnostics and treatment of serious heart and vascular diseases using genomic and proteomic approaches
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	11
http://linked.open...iv/tvurceVysledku	Freiberger, Tomáš Soška, Vladimír Tichý, L. Fajkusová, L. Fajkus, J. Goldmann, R. Letocha, O. Zapletalová, P.
http://linked.open...ain/vavai/riv/wos	000283193200001
http://linked.open...n/vavai/riv/zamer	Molecular basis of cell and tissue regulations
issn	1471-2350
number of pages	8 (xsd:int)
http://bibframe.org/vocab/doi	10.1186/1471-2350-11-115

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