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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F10%3A7661%21RIV11-MZ0-00064165
rdf:type
n6:Vysledek skos:Concept
dcterms:description
We report protocol for a denaturating high performance liquid chromatography (dHPLC), which is used for the rapid and accurate detection of mutations in the IDUA gene. PCR running and dHPLC partial denaturing conditions for mutation detection were established for each PCR amplicon corresponding to 14 IDUA exons and their adjacent intronic/flanking sequences. Twelve different mutations, 5 nonsense, 4 missense, 1 deletion, and 2 splice site (intron) were screened. All mutations revealed a distinct dHPLC pattern thus enabling their accurate detection. The results show, that dHPLC method is robust and highly sensitive. We report protocol for a denaturating high performance liquid chromatography (dHPLC), which is used for the rapid and accurate detection of mutations in the IDUA gene. PCR running and dHPLC partial denaturing conditions for mutation detection were established for each PCR amplicon corresponding to 14 IDUA exons and their adjacent intronic/flanking sequences. Twelve different mutations, 5 nonsense, 4 missense, 1 deletion, and 2 splice site (intron) were screened. All mutations revealed a distinct dHPLC pattern thus enabling their accurate detection. The results show, that dHPLC method is robust and highly sensitive.
dcterms:title
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I
skos:prefLabel
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I
skos:notation
RIV/00064165:_____/10:7661!RIV11-MZ0-00064165
n3:aktivita
n13:Z n13:I
n3:aktivity
I, Z(MSM0021620806)
n3:cisloPeriodika
5-6
n3:dodaniDat
n10:2011
n3:domaciTvurceVysledku
n8:7786301 n8:6270875 n8:2876361
n3:druhVysledku
n15:J
n3:duvernostUdaju
n11:S
n3:entitaPredkladatele
n12:predkladatel
n3:idSjednocenehoVysledku
283907
n3:idVysledku
RIV/00064165:_____/10:7661
n3:jazykVysledku
n16:eng
n3:klicovaSlova
Mucopolysaccharidosis type I; MPS I; alpha-L-Iduronidase; IDUA; dHPLC; disease; identification; prevalence; frequency; phenotype; families; gene
n3:klicoveSlovo
n4:identification n4:alpha-L-Iduronidase n4:disease n4:IDUA n4:families n4:prevalence n4:phenotype n4:dHPLC n4:frequency n4:gene n4:Mucopolysaccharidosis%20type%20I n4:MPS%20I
n3:kodStatuVydavatele
NL - Nizozemsko
n3:kontrolniKodProRIV
[F4D80C0FC731]
n3:nazevZdroje
Clinica Chimica Acta
n3:obor
n9:EB
n3:pocetDomacichTvurcuVysledku
3
n3:pocetTvurcuVysledku
9
n3:rokUplatneniVysledku
n10:2010
n3:svazekPeriodika
411
n3:tvurceVysledku
Pollak, Arnold Kasper, David C Zeman, Jiří Magner, Martin Herkner, Kurt R. Item, Chike B. Bodamer, Olaf Dvořáková, Lenka Iqbal, Furhan
n3:wos
000275586300007
n3:zamer
n17:MSM0021620806
s:issn
0009-8981
s:numberOfPages
6