About: Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. (en)
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 (en)
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 (en)
skos:notation	RIV/00064165:_____/10:7661!RIV11-MZ0-00064165
http://linked.open...avai/riv/aktivita	I Z
http://linked.open...avai/riv/aktivity	I, Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	5-6
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Zeman, Jiří Dvořáková, Lenka Magner, Martin
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	Všeobecná fakultní nemocnice v Praze / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	283907
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/10:7661
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Mucopolysaccharidosis type I; MPS I; alpha-L-Iduronidase; IDUA; dHPLC; disease; identification; prevalence; frequency; phenotype; families; gene (en)
http://linked.open.../riv/klicoveSlovo	Mucopolysaccharidosis type I disease frequency gene identification prevalence families phenotype IDUA MPS I alpha-L-Iduronidase dHPLC
http://linked.open...odStatuVydavatele	NL - Nizozemsko
http://linked.open...ontrolniKodProRIV	[F4D80C0FC731]
http://linked.open...i/riv/nazevZdroje	Clinica Chimica Acta
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	411
http://linked.open...iv/tvurceVysledku	Dvořáková, Lenka Magner, Martin Zeman, Jiří Bodamer, Olaf Herkner, Kurt R. Iqbal, Furhan Item, Chike B. Kasper, David C Pollak, Arnold
http://linked.open...ain/vavai/riv/wos	000275586300007
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	0009-8981
number of pages	6 (xsd:int)
is http://linked.open...avai/riv/vysledek of	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 Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I

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