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自闭症易感基因发掘的综合临床表型和遗传作图

Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes

作者:Herman, G. E.; Hansen, E.; Sadee, W.; Smith, R.; Dewitt, M. B. 加工时间:2015-08-23 信息来源:科技报告(AD) 索取原文[61 页]
关键词:遗传图谱;染色体;发育生物学
摘 要:Autism is an extremely common and heterogeneous neurodevelopmental disorder. While genetic factors are known to play a critical role in the etiologies of autism, the underlying genes and mechanisms remain unknown in approximately 70-75% of cases. Advances in technology and our understanding of the causes of autism are occurring at a rapid pace, affecting standards for clinical patient care. The purpose of the central Ohio registry for autism (CORA) is to develop a comprehensive autism registry for genetic and other studies for military and civilian families in central Ohio. Congressionally- supported funding for the project was secured, beginning in late 2009 (total $2.77 million, September 30, 2009-December 31, 2012). The specific aims of the project are to support (1) development of the CORA registry; (2) expansion of diagnostic and treatment services for WPAFB families through a collaboration with Dayton Children's Medical Center (DCMC); (3) molecular studies to identify novel autism susceptibility genes; and (4) cost and satisfaction analyses for the military services components in Aim 2.
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