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References
Rosenfeld, R.G., Rosenbloom, A.L. & Guevara-Aguire J. Endocrine Rev. 15, 369–390 (1994).
Goddard, A.D. et al. N. Engl. J. Med. 333, 1093–1098 (1995).
Godowski, P.J. et al. Proc. Natl. Acad. Sci. USA 86, 8083–8087 (1989).
et al. Nature 330, 537–543 (1987).
Finidori, J. & Kelly, P.A. J. Endocrinol. 147, 11–23 (1995).
Dinerstein, H. et al. Mol. Endocrinol. 9, 1701–1707 (1995).
Ross, R. et al. Mol. Endocrinol. 11, 265–273 (1977).
Barber, D.L., DeMartino, J.C., Showers, M.O. & D'Andrea, A.D. Mol. Cell. Biol. 14, 2257–2265 (1994).
Cunningham, B.C. et al. Science 254, 821–825 (1991).
Allevato, G. et al. J. Biol. Chem. 270, 17210–17214 (1995).
Strous, G J. et al. EMBO J. 15, 3806–3812 (1996).
Dastot, F. et al. Proc. Natl. Acad. Sci. USA 93, 10723–10728 (1996).
Berg, M.A., Guevara-Aguirre, J. & Rosenbloom, A.L. Hum. Mut. 1, 24–34 (1992).
Sotiropoulos, A. et al. Endocrinol. 132, 1863–1865 (1993).
Sotiropoulos, A. et al. Mol. Endocrinol. 10, 998–1009 (1996).
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Ayling, R., Ross, R., Towner, P. et al. A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet 16, 13–14 (1997). https://doi.org/10.1038/ng0597-13
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DOI: https://doi.org/10.1038/ng0597-13
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