Article
No correlation of growth hormone receptor gene mutation P561T with body height.
European journal of endocrinology - 1 May 1996
Chujo S, Kaji H, Takahashi Y, Okimura Y, Abe H, Chihara K
Abstract excerpt
Analysis of the growth hormone receptor (GHR) gene in GH insensitivity syndrome revealed various mutations, mainly in the gene encoding the extracellular domain of GHR. On the other hand, the mutation of the gene encoding the cytoplasmic domain of GHR was not found. We have reported, in the cytoplasmic domain of a GHR gene, mutation P561T in a patient with Noonan syndrome who showed a blunted insulin-like growth...
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