Assay of growth hormone receptor gene mutations in children with idiopathic short stature
- VernacularTitle:特发性矮小患儿生长激素受体基因突变检测
- Author:
Xingxing ZHANG
;
Zhuwen YI
;
Xiuying WANG
;
Xiaojie HE
;
Qingnan HE
- Publication Type:Journal Article
- Keywords:
Idiopathic short stature;
Receptor,growth hormone;
Polymerase chain reaction;
Polymorphism,single-strand conformational;
Gene mutation
- From:
Chinese Journal of Endocrinology and Metabolism
2008;24(3):254-255
- CountryChina
- Language:Chinese
-
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.
