Article
The C422F mutation of the growth hormone receptor gene is not responsible for short stature.
The Journal of clinical endocrinology and metabolism - 1 Nov 1999
Iida K, Takahashi Y, Kaji H, Onodera N, Takahashi M O, Okimura Y, Abe H, Chihara K
Abstract excerpt
A missense mutation, C422F, was identified in the intracellular domain of GH receptor (GHR) in a Japanese short boy. Although this mutation was previously reported in a patient with GH insensitivity syndrome (GHIS), it has not been clear whether this mutation causes GH insensitivity. To clarify the effect of this mutation on GH signal transduction, mutant GHR was expressed in CHO cells, and its functional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.