[Truncated growth hormone receptor mutations function as dominant-negative inhibitors of the full-length receptor and cause genetic short stature].

Abstract excerpt

Truncated growth hormone receptor (GHR) mutations that lack the majority of the cytoplasmic domain have been identified in familial short stature and same truncated GHR isoforms generated by alternative splicing in a number of normal human tissues. The binding affinity of the truncated GHR was similar to that seen for the full-length receptor and the truncated GHR showed a much greater expression on the cell...

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