About: ADVANCE IN MOLECULAR DIAGNOSIS OF FAMILIAL HYPECHOLESTEROLEMIA IN THE CZECH POPULATION: IDENTIFICATION AND CHARACTERIZATION OF LARGE REARRANGEMENTS IN LDLR GENE

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: ADVANCE IN MOLECULAR DIAGNOSIS OF FAMILIAL HYPECHOLESTEROLEMIA IN THE CZECH POPULATION: IDENTIFICATION AND CHARACTERIZATION OF LARGE REARRANGEMENTS IN LDLR GENE 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
Description	Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the gene encoding the low density lipoprotein receptor (LDLR). Mutations in the LDLR gene were diagnosed using exon by exon screening methods based on individual exon amplification, DHPLC analysis and sequencing. Recently, a novel method for genomic quantification, Multiplex Ligation-dependent Probe Amplification (MLPA), has been developed. In order to explore the possibility that whole exon deletions or duplications could be the causative mutation on some yet uncharacterized mutant LDLR alleles, we used MLPA technique in this study.Six different large deletions and three duplications were found, 3 of which (EX9_15del-14kb, EX9_14del-9.5kb and EX2_6dup-8.5kb) were prevalent in FH individuals from the Czech population. Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the gene encoding the low density lipoprotein receptor (LDLR). Mutations in the LDLR gene were diagnosed using exon by exon screening methods based on individual exon amplification, DHPLC analysis and sequencing. Recently, a novel method for genomic quantification, Multiplex Ligation-dependent Probe Amplification (MLPA), has been developed. In order to explore the possibility that whole exon deletions or duplications could be the causative mutation on some yet uncharacterized mutant LDLR alleles, we used MLPA technique in this study.Six different large deletions and three duplications were found, 3 of which (EX9_15del-14kb, EX9_14del-9.5kb and EX2_6dup-8.5kb) were prevalent in FH individuals from the Czech population. (en)
Title	ADVANCE IN MOLECULAR DIAGNOSIS OF FAMILIAL HYPECHOLESTEROLEMIA IN THE CZECH POPULATION: IDENTIFICATION AND CHARACTERIZATION OF LARGE REARRANGEMENTS IN LDLR GENE ADVANCE IN MOLECULAR DIAGNOSIS OF FAMILIAL HYPECHOLESTEROLEMIA IN THE CZECH POPULATION: IDENTIFICATION AND CHARACTERIZATION OF LARGE REARRANGEMENTS IN LDLR GENE (en)
skos:prefLabel	ADVANCE IN MOLECULAR DIAGNOSIS OF FAMILIAL HYPECHOLESTEROLEMIA IN THE CZECH POPULATION: IDENTIFICATION AND CHARACTERIZATION OF LARGE REARRANGEMENTS IN LDLR GENE ADVANCE IN MOLECULAR DIAGNOSIS OF FAMILIAL HYPECHOLESTEROLEMIA IN THE CZECH POPULATION: IDENTIFICATION AND CHARACTERIZATION OF LARGE REARRANGEMENTS IN LDLR GENE (en)
skos:notation	RIV/00216224:14110/07:00025722!RIV10-MZ0-14110___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(LC06023), P(NR8451)
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Freiberger, Tomáš Kozák, L.
http://linked.open.../riv/druhVysledku	D - Článek ve sborníku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Lékařská fakulta
http://linked.open...dnocenehoVysledku	408640
http://linked.open...ai/riv/idVysledku	RIV/00216224:14110/07:00025722
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Familial Hyprecholesterolemia; LDLR gene; MLPA (en)
http://linked.open.../riv/klicoveSlovo	MLPA LDLR gene Familial Hyprecholesterolemia
http://linked.open...ontrolniKodProRIV	[AF34F5BD18C7]
http://linked.open...v/mistoKonaniAkce	Helsinki; Finland
http://linked.open...i/riv/mistoVydani	Ireland
http://linked.open...i/riv/nazevZdroje	Atherosclerosis
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	2 (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. Application of DNA chips (microarrays) for molecular diagnosis of inherited diseases
http://linked.open...UplatneniVysledku	2007
http://linked.open...iv/tvurceVysledku	Freiberger, Tomáš Kozák, Libor Goldmann, R. Letocha, O. Porubkova, J. Tichy, L. Vyroubalova, L. Zapletalova, P.
http://linked.open...vavai/riv/typAkce	WRD - Světová
http://linked.open.../riv/zahajeniAkce	2007-06-10 (xsd:date)
issn	1567-5688
number of pages	1 (xsd:int)
http://purl.org/ne...btex#hasPublisher	Elsevier
http://localhost/t...ganizacniJednotka	14110

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 48 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software