A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH‐binding activity by abolishing receptor homodimerization.

Philippe Duquesnoy, Marie‐Laure Sobrier, Bénédicte Duriez, Florence Dastot, C R Buchanan, Martin O. Savage, Michael A. Preece, Constantin T. Craescu, Y. Blouquit, Michel Goossens

The EMBO Journal · 1994 · 156 citations · 42 references

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