Article
Short stature caused by a mutant growth hormone with an antagonistic effect.
Endocrine journal - 1 Oct 1996
Takahashi Y, Kaji H, Okimura Y, Goji K, Abe H, Chihara K
Abstract excerpt
The molecular basis of biologically inactive GH remained unclear until recently. We have very recently reported a child with short stature and a mutant GH caused by a single missense mutation in the GH-1 gene, which itself cannot transduce the GH-signal to the cells but can blunt the action of wild-type GH by virtue of its greater affinity for the GH binding protein (GHBP)/GH receptor. Briefly the clinical...
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