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  • PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 8, p. 1458, doi. 10.1093/hmg/ddx048
    By:
    • Doe, Jinger;
    • Kaindl, Angela M.;
    • Jijiwa, Mayumi;
    • de la Vega, Michelle;
    • Hao Hu;
    • Griffiths, Genevieve S.;
    • Fontelonga, Tatiana M.;
    • Barraza, Pamela;
    • Cruz, Vivian;
    • Van Ry, Pam;
    • Ramos, Joe W.;
    • Burkin, Dean J.;
    • Matter, Michelle L.
    Publication type:
    Article