Article
Autosomal dominant growth hormone (GH) deficiency type II: the Del32-71-GH deletion mutant suppresses secretion of wild-type GH.
Endocrinology - 1 Mar 2000
Lee M S, Wajnrajch M P, Kim S S, Plotnick L P, Wang J, Gertner J M, Leibel R L, Dannies P S
Abstract excerpt
Familial isolated GH deficiency type II is an autosomal dominant form of short stature, associated in some families with mutations that result in missplicing to produce del32-71-GH, a protein that cannot fold normally. The mechanism by which this mutant suppresses the secretion of wild-type GH en...
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