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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F09%3A5488%21RIV10-MZ0-11130___
rdf:type
skos:Concept n11:Vysledek
dcterms:description
Hereby we present evaluation of high-resolution melting for mutation scanning applied to the cystic fibrosis transmembrane conductance regulator gene. High resolution melting was used for mutation scanning of selected samples derived from cystic fibrosis patients with a known cystic fibrosis transmembrane conductance regulator genotype. We tested 19 different disease-causing cystic fibrosis transmembrane conductance regulator mutant genotypes located within six exons of the cystic fibrosis transmembrane conductance regulator gene (4, 7, 10, 11, 14b and 22). Normalized melting curves of tested samples were compared to sequenced-verified wildtype samples Hereby we present evaluation of high-resolution melting for mutation scanning applied to the cystic fibrosis transmembrane conductance regulator gene. High resolution melting was used for mutation scanning of selected samples derived from cystic fibrosis patients with a known cystic fibrosis transmembrane conductance regulator genotype. We tested 19 different disease-causing cystic fibrosis transmembrane conductance regulator mutant genotypes located within six exons of the cystic fibrosis transmembrane conductance regulator gene (4, 7, 10, 11, 14b and 22). Normalized melting curves of tested samples were compared to sequenced-verified wildtype samples
dcterms:title
Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene
skos:prefLabel
Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene
skos:notation
RIV/00216208:11130/09:5488!RIV10-MZ0-11130___
n3:aktivita
n16:P n16:Z
n3:aktivity
P(NR9448), Z(MZ0FNM2005)
n3:cisloPeriodika
6
n3:dodaniDat
n12:2010
n3:domaciTvurceVysledku
n5:7011288 n5:7655452 Norambuena, Patricia n5:9104992
n3:druhVysledku
n14:J
n3:duvernostUdaju
n19:S
n3:entitaPredkladatele
n4:predkladatel
n3:idSjednocenehoVysledku
313862
n3:idVysledku
RIV/00216208:11130/09:5488
n3:jazykVysledku
n15:eng
n3:klicovaSlova
CFTR; high-resolution melting; HRM; mutation detection
n3:klicoveSlovo
n6:mutation%20detection n6:HRM n6:high-resolution%20melting n6:CFTR
n3:kodStatuVydavatele
CZ - Česká republika
n3:kontrolniKodProRIV
[2C4189B159A3]
n3:nazevZdroje
Folia Biologica
n3:obor
n17:EB
n3:pocetDomacichTvurcuVysledku
4
n3:pocetTvurcuVysledku
4
n3:projekt
n13:NR9448
n3:rokUplatneniVysledku
n12:2009
n3:svazekPeriodika
55
n3:tvurceVysledku
Štambergová, Alexandra Křenková, Petra Macek jr., Milan Norambuena, Patricia
n3:wos
000274039700006
n3:zamer
n18:MZ0FNM2005
s:issn
0015-5500
s:numberOfPages
5
n9:organizacniJednotka
11130