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New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F03%3A00006097" target="_blank" >RIV/00216208:11110/03:00006097 - isvavai.cz</a>

  • Alternative codes found

    RIV/00064165:_____/03:00000556

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis

  • Original language description

    Urea cycle disorder, ornithine transcarbamylase deficiency, diagnosis, polymorphisms, population genetics

  • 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

    <a href="/en/project/NE6557" target="_blank" >NE6557: Mutation analysis in frequent X-linked inherited metabolic diseases (ornithincarbamoyltrasferase deficiency,muccopolysaccharidosis type II,and hypoxanthin-phosporibosyltransferase deficiency</a><br>

  • Continuities

    Z - Vyzkumny zamer (s odkazem do CEZ)

Others

  • Publication year

    2003

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Molecular Genetics and Metabolism

  • ISSN

    1096-7192

  • e-ISSN

  • Volume of the periodical

    2003

  • Issue of the periodical within the volume

    78

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    6

  • Pages from-to

    152-157

  • UT code for WoS article

  • EID of the result in the Scopus database