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Statements

Subject Item
n2:RIV%2F00216224%3A14110%2F07%3A00025722%21RIV10-MZ0-14110___
rdf:type
n7:Vysledek skos:Concept
dcterms: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.
dcterms: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
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
skos:notation
RIV/00216224:14110/07:00025722!RIV10-MZ0-14110___
n5:aktivita
n17:P
n5:aktivity
P(LC06023), P(NR8451)
n5:dodaniDat
n13:2010
n5:domaciTvurceVysledku
n10:1271326 n10:4296648
n5:druhVysledku
n15:D
n5:duvernostUdaju
n8:S
n5:entitaPredkladatele
n9:predkladatel
n5:idSjednocenehoVysledku
408640
n5:idVysledku
RIV/00216224:14110/07:00025722
n5:jazykVysledku
n16:eng
n5:klicovaSlova
Familial Hyprecholesterolemia; LDLR gene; MLPA
n5:klicoveSlovo
n11:Familial%20Hyprecholesterolemia n11:MLPA n11:LDLR%20gene
n5:kontrolniKodProRIV
[AF34F5BD18C7]
n5:mistoKonaniAkce
Helsinki; Finland
n5:mistoVydani
Ireland
n5:nazevZdroje
Atherosclerosis
n5:obor
n20:EB
n5:pocetDomacichTvurcuVysledku
2
n5:pocetTvurcuVysledku
8
n5:projekt
n14:LC06023 n14:NR8451
n5:rokUplatneniVysledku
n13:2007
n5:tvurceVysledku
Vyroubalova, L. Kozák, Libor Letocha, O. Goldmann, R. Tichy, L. Freiberger, Tomáš Zapletalova, P. Porubkova, J.
n5:typAkce
n18:WRD
n5:zahajeniAkce
2007-06-10+02:00
s:issn
1567-5688
s:numberOfPages
1
n19:hasPublisher
Elsevier
n12:organizacniJednotka
14110