Genomics in Pediatric Endocrinology-Genetic Disorders and New Techniques

被引:1
作者
Tenore, Alfred [1 ]
Driul, Daniela [1 ]
机构
[1] Univ Udine, Div Pediat Endocrinol, Dept Pediat DPMSC, Sch Med, I-33100 Udine, Italy
关键词
Genomics; Hormones; Pediatric endocrinology; Positional cloning; DNA microarray; GROWTH-HORMONE; RECEPTOR GENE; MOLECULAR-BASIS; NEOPLASIA TYPE-1; G-PROTEIN; MUTATIONS; SUSCEPTIBILITY; THERAPY; DEFICIENCY; MECHANISMS;
D O I
10.1016/j.pcl.2011.07.001
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
In the last few years, there have been remarkable advances in the development of new and more sophisticated genetic techniques. These have allowed a better understanding of the molecular mechanisms of genetically determined pediatric endocrine disorders and are paving the way for a radical change in diagnosis and treatment. This article introduces some of these concepts and some of the genetic techniques being used.
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页码:1061 / +
页数:22
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