Molecular aberration studies in cases of idiopathic mental retardation: An update.
作者信息
Das Dhanjit Kumar
机构信息
Genetic Research Centre, National Institute for Research in Reproductive Health, Mumbai, Maharashtra, India.
出版信息
Indian J Hum Genet. 2013 Apr;19(2):123-4. doi: 10.4103/0971-6866.116100.
Abstract
摘要
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本文引用的文献
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Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India.印度南部特发性智力障碍儿童的多重连接依赖探针扩增研究。
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Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.MECP2 基因突变谱在一组印度雷特综合征患者中的研究：两种新突变的报告。
Gene. 2013 Feb 15;515(1):78-83. doi: 10.1016/j.gene.2012.11.024. Epub 2012 Dec 20.
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Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.印度雷特综合征病例中环依赖性激酶样 5（CDKL5）基因突变的研究。
Neuromolecular Med. 2013 Mar;15(1):218-25. doi: 10.1007/s12017-012-8212-z. Epub 2012 Dec 15.
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High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?高分辨率 SNP 芯片在精神发育迟滞诊断中的应用：我们能获得多少收益？
Eur J Hum Genet. 2010 Feb;18(2):178-85. doi: 10.1038/ejhg.2009.154. Epub 2009 Oct 7.
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