Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F10%3A7661" target="_blank" >RIV/00216208:11110/10:7661 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/10:7661
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I
Original language 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.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2010
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Clinica Chimica Acta
ISSN
0009-8981
e-ISSN
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Volume of the periodical
411
Issue of the periodical within the volume
5-6
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
6
Pages from-to
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UT code for WoS article
000275586300007
EID of the result in the Scopus database
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