1.
Chinese Journal of Endocrinology and Metabolism
; (12): 254-255, 2008.
Article
in Chinese
| WPRIM
| ID: wpr-399139
ABSTRACT
A homozygous A to G transition (AGT to GGT) in codon 16 of growth hormone receptor (GHR) gene was found in one patient with idiopathic short stature(ISS), resulting in an amino acid change(Ser16Gly). This may be a novel GHR gene mutation; and another novel Arg43Gln GHR gene polymorphism was found in Chinese people.