Endocrine Abstracts

The pituitary-expressed growth hormone 1 gene was screened for mutation in a group of 74 Spanish children with familial short stature resulting in the identification of a novel Ile179Met missense mutation. Variant and wild-type GH were expressed in insect cells and functional studies were performed. The Ile179Met variant was shown to exhibit a similar degree of resistance to proteolysis as wild-type GH, indicating that the introduction of Met does not cause significant ...