This HTML5 document contains 54 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

PrefixIRI
dctermshttp://purl.org/dc/terms/
n10http://localhost/temp/predkladatel/
n18http://linked.opendata.cz/resource/domain/vavai/riv/tvurce/
n8http://linked.opendata.cz/resource/domain/vavai/projekt/
n14http://linked.opendata.cz/ontology/domain/vavai/
shttp://schema.org/
n4http://linked.opendata.cz/ontology/domain/vavai/riv/
skoshttp://www.w3.org/2004/02/skos/core#
n16http://linked.opendata.cz/resource/domain/vavai/vysledek/RIV%2F00216208%3A11130%2F09%3A5465%21RIV10-MZ0-11130___/
n2http://linked.opendata.cz/resource/domain/vavai/vysledek/
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
n5http://linked.opendata.cz/ontology/domain/vavai/riv/klicoveSlovo/
n9http://linked.opendata.cz/ontology/domain/vavai/riv/duvernostUdaju/
xsdhhttp://www.w3.org/2001/XMLSchema#
n17http://linked.opendata.cz/ontology/domain/vavai/riv/jazykVysledku/
n13http://linked.opendata.cz/ontology/domain/vavai/riv/aktivita/
n15http://linked.opendata.cz/ontology/domain/vavai/riv/druhVysledku/
n7http://linked.opendata.cz/ontology/domain/vavai/riv/obor/
n12http://reference.data.gov.uk/id/gregorian-year/

Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F09%3A5465%21RIV10-MZ0-11130___
rdf:type
skos:Concept n14:Vysledek
dcterms:description
Patients affected by the autosomal recessive Nijmegen Breakage Syndrome (NBS [MIM 251260]) have possibly the highest risk for developing a malignancy of all the chromosomal instability syndromes. This reflects the profound disturbance to genomic integrity and cellular homeostasis that is caused by the mutation of the essential mammalian gene, NBN. Patients affected by the autosomal recessive Nijmegen Breakage Syndrome (NBS [MIM 251260]) have possibly the highest risk for developing a malignancy of all the chromosomal instability syndromes. This reflects the profound disturbance to genomic integrity and cellular homeostasis that is caused by the mutation of the essential mammalian gene, NBN.
dcterms:title
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome
skos:prefLabel
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome
skos:notation
RIV/00216208:11130/09:5465!RIV10-MZ0-11130___
n4:aktivita
n13:P
n4:aktivity
P(NR7916)
n4:cisloPeriodika
1
n4:dodaniDat
n12:2010
n4:domaciTvurceVysledku
n18:8877777
n4:druhVysledku
n15:J
n4:duvernostUdaju
n9:S
n4:entitaPredkladatele
n16:predkladatel
n4:idSjednocenehoVysledku
307298
n4:idVysledku
RIV/00216208:11130/09:5465
n4:jazykVysledku
n17:eng
n4:klicovaSlova
DNA repair; Nonsense-mediated mRNA decay; Hypomorphic mutation; Proteasome inhibition; messenger-rna decay; nbs1 contributes; gene-mutations; disease; protein; cancer; overexpression; identification; transformation; malignancies
n4:klicoveSlovo
n5:gene-mutations n5:Hypomorphic%20mutation n5:identification n5:transformation n5:disease n5:malignancies n5:Nonsense-mediated%20mRNA%20decay n5:nbs1%20contributes n5:overexpression n5:messenger-rna%20decay n5:DNA%20repair n5:Proteasome%20inhibition n5:cancer n5:protein
n4:kodStatuVydavatele
NL - Nizozemsko
n4:kontrolniKodProRIV
[CC5A28AF882F]
n4:nazevZdroje
Gene
n4:obor
n7:EB
n4:pocetDomacichTvurcuVysledku
1
n4:pocetTvurcuVysledku
6
n4:projekt
n8:NR7916
n4:rokUplatneniVysledku
n12:2009
n4:svazekPeriodika
447
n4:tvurceVysledku
Chrzanowska, KH Kruger, L. Seemanová, Eva Digweed, M. Lins, S. Kim, R.
n4:wos
000270527200002
s:issn
0378-1119
s:numberOfPages
6
n10:organizacniJednotka
11130