Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification

    Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

    Alkuperäiskielienglanti
    LehtiInternational Journal of Cancer
    Vuosikerta123
    Numero3
    Sivut720-724
    Sivumäärä5
    ISSN0020-7136
    DOI - pysyväislinkit
    TilaJulkaistu - 2008
    OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

    Tieteenalat

    • 118 Biotieteet
    • 311 Peruslääketieteet

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    @article{676c8c1572df464582625477885ab47e,
    title = "Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification",
    keywords = "hereditary non-polyposis colorectal cancer, mismatch repair, MSH2, functional analysis, unclassified variant, NONPOLYPOSIS COLORECTAL-CANCER, MISMATCH REPAIR GENES, MISSENSE MUTATIONS, FUNCTIONAL-ANALYSIS, MICROSATELLITE INSTABILITY, HEREDITARY, MLH1, PROTEIN, HNPCC, HMLH1, 118 Biological sciences, 311 Basic medicine",
    author = "Saara Ollila and {Dermadi Bebek}, Denis and Marc Greenblatt and Minna Nystr{\"o}m",
    year = "2008",
    doi = "10.1002/ijc.23573",
    language = "English",
    volume = "123",
    pages = "720--724",
    journal = "International Journal of Cancer",
    issn = "0020-7136",
    publisher = "Wiley",
    number = "3",

    }

    Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification. / Ollila, Saara; Dermadi Bebek, Denis; Greenblatt, Marc; Nyström, Minna.

    julkaisussa: International Journal of Cancer, Vuosikerta 123, Nro 3, 2008, s. 720-724.

    Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

    TY - JOUR

    T1 - Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification

    AU - Ollila, Saara

    AU - Dermadi Bebek, Denis

    AU - Greenblatt, Marc

    AU - Nyström, Minna

    PY - 2008

    Y1 - 2008

    KW - hereditary non-polyposis colorectal cancer

    KW - mismatch repair

    KW - MSH2

    KW - functional analysis

    KW - unclassified variant

    KW - NONPOLYPOSIS COLORECTAL-CANCER

    KW - MISMATCH REPAIR GENES

    KW - MISSENSE MUTATIONS

    KW - FUNCTIONAL-ANALYSIS

    KW - MICROSATELLITE INSTABILITY

    KW - HEREDITARY

    KW - MLH1

    KW - PROTEIN

    KW - HNPCC

    KW - HMLH1

    KW - 118 Biological sciences

    KW - 311 Basic medicine

    U2 - 10.1002/ijc.23573

    DO - 10.1002/ijc.23573

    M3 - Article

    VL - 123

    SP - 720

    EP - 724

    JO - International Journal of Cancer

    JF - International Journal of Cancer

    SN - 0020-7136

    IS - 3

    ER -