Works matching IS 14712156 AND DT 2016 AND VI 17

Results: 158
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    The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.

    Published in:
    BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0354-9
    By:
    • Mikstiene, Violeta;
    • Jakaitiene, Audrone;
    • Byckova, Jekaterina;
    • Gradauskiene, Egle;
    • Preiksaitiene, Egle;
    • Burnyte, Birute;
    • Tumiene, Birute;
    • Matuleviciene, Ausra;
    • Ambrozaityte, Laima;
    • Uktveryte, Ingrida;
    • Domarkiene, Ingrida;
    • Rancelis, Tautvydas;
    • Cimbalistiene, Loreta;
    • Lesinskas, Eugenijus;
    • Kucinskas, Vaidutis;
    • Utkus, Algirdas
    Publication type:
    Article
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    The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.

    Published in:
    BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0346-9
    By:
    • Farkas, Katalin;
    • Deák, Barbara Kocsis;
    • Sánchez, Laura Cubells;
    • Martínez, Ana Mercedes Victoria;
    • Corell, Juan José Vilata;
    • Botella, Alfredo Montoro;
    • Benito, Goitzane Marcaida;
    • López, Raquel Rodríguez;
    • Vanecek, Tomas;
    • Kazakov, Dmitry V.;
    • Kromosoeto, Joan N. R.;
    • van den Ouweland, Ans M. W.;
    • Varga, János;
    • Széll, Márta;
    • Nagy, Nikoletta
    Publication type:
    Article
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    Pathway-based analyses.

    Published in:
    BMC Genetics, 2016, v. 17, p. 42, doi. 10.1186/s12863-015-0314-9
    By:
    • Kent Jr, Jack W.
    Publication type:
    Article
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