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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

  • DOI - Digital Object Identifier

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

  • Czech description

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

Result continuities

  • Project

  • 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

  • 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

  • UT code for WoS article

    000275586300007

  • EID of the result in the Scopus database