Analysis of the human growth hormone receptor and IGF-I coding sequences in children with growth disorders

被引：0
|
作者：
Obrepalska-Steplowska, A
Kedzia, A
Gozdzicka-Józefiak, A
Jakubowicz, M
Korman, E
机构：
[1] Adam Mickiewicz Univ, Inst Mol Biol & Biotechnol, Dept Mol Virol, PL-60371 Poznan, Poland
[2] Univ Med, Inst Endocrinol & Diabetol, Clin Paediat, Poznan, Poland
来源：
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2003年 / 16卷 / 06期
关键词：
growth hormone receptor; IGF-I; growth retardation;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Analysis of GHR and IGF-I coding sequences in 47 children with normal serum levels of GH, low IGF-I and growth disorders generally did not show mutation in the genes studied. Only one boy had a mutation located in the fifth exon of the GHR gene (C-->T in codon 88). This suggests that the growth disorders in this group of children might be due to a defect in a DNA region regulating expression of the GHR and IGF1 genes or genes involved in their regulation.
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收藏
页码：819 / 825
页数：7
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