About: Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients

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About: Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients 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)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combinations of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter region and coding sequence of the low density lipoprotein receptor (LDLR) gene in 130 patients from 68 unrelated families resulted in the identification of 37 sequence variations. Thirty of them are most likely disease causing mutations. Nineteen mutations were novel (two nonsense, five missense, six nucleotide(s) insertions and six nucleotide(s)deletions). Their pathological effect can be predicted on the basis of their position with respect activity to previously reported mutations with an estimated reduction of the receptor activity and/or premature termination of translation. These results expand our knowledge of mutations responsible for FH. Seven nucleotide variations were characterized as silent pol The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combinations of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter region and coding sequence of the low density lipoprotein receptor (LDLR) gene in 130 patients from 68 unrelated families resulted in the identification of 37 sequence variations. Thirty of them are most likely disease causing mutations. Nineteen mutations were novel (two nonsense, five missense, six nucleotide(s) insertions and six nucleotide(s)deletions). Their pathological effect can be predicted on the basis of their position with respect activity to previously reported mutations with an estimated reduction of the receptor activity and/or premature termination of translation. These results expand our knowledge of mutations responsible for FH. Seven nucleotide variations were characterized as silent pol (en)
Title	Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients (en)
skos:prefLabel	Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients (en)
skos:notation	RIV/00216224:14310/01:00004341!RIV/2002/GA0/143102/N
http://linked.open.../vavai/riv/strany	253
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(GA302/97/0742)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2002
http://linked.open...aciTvurceVysledku	Freiberger, Tomáš Sťahlová Hrabincová, Eva Kozák, L. Slováčková, Romana
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	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	696690
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/01:00004341
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	familial hypercholesterolemia;FH;LDL receptor;mutations (en)
http://linked.open.../riv/klicoveSlovo	mutations familial hypercholesterolemia FH LDL receptor
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[98E399C7CFB4]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...ocetUcastnikuAkce	0 (xsd:int)
http://linked.open...nichUcastnikuAkce	0 (xsd:int)
http://linked.open...vavai/riv/projekt	The comprehensive study of glycogen storage disease based on DNA analysis.
http://linked.open...UplatneniVysledku	2001
http://linked.open...v/svazekPeriodika	18
http://linked.open...iv/tvurceVysledku	Fajkusová, Lenka Freiberger, Tomáš Zapletalová, Petra Francová, Hana Hrabincová, Eva Kozák, Libor Kuhrová, Viera Slováčková, Romana
issn	1059-7794
number of pages	3 (xsd:int)
http://localhost/t...ganizacniJednotka	14310

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