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Identification and functional analysis of two novel mutations in CBS gene in Polish patients with homocysteinuria

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F04%3A00007782" target="_blank" >RIV/00216208:11110/04:00007782 - isvavai.cz</a>

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    Identification and functional analysis of two novel mutations in CBS gene in Polish patients with homocysteinuria

  • Original language description

    homocystinuria, cystathionine beta-synthase, CBS

  • Czech name

    Identifikace a funkční analýza dvou nových mutací genu pro CBS u polských pacientů s homocysteinurií

  • Czech description

    homocystinurie, cystathionine beta syntáza, CBS

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

    2004

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Human Mutation

  • ISSN

    1059-7794

  • e-ISSN

  • Volume of the periodical

    23

  • Issue of the periodical within the volume

    6

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    6

  • Pages from-to

    631-636

  • UT code for WoS article

  • EID of the result in the Scopus database