Works matching IS 08044643 AND DT 2016 AND VI 175 AND IP 2


Results: 14
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    A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).

    Published in:
    European Journal of Endocrinology, 2016, v. 175, n. 2, p. K7, doi. 10.1530/EJE-15-0149
    By:
    • Madeira, João L. O.;
    • Jorge, Alexander A. L.;
    • Martin, Regina M.;
    • Montenegro, Luciana R.;
    • Franca, Marcela M.;
    • Costalonga, Everlayny F.;
    • Correa, Fernanda A.;
    • Otto, Aline P.;
    • Arnhold, Ivo J. P.;
    • Freitas, Helayne S.;
    • Machado, Ubiratan F.;
    • Mendonca, Berenice B.;
    • Carvalho, Luciani R.
    Publication type:
    Article
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