标题:Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa
作者:Hui Guo;Ji-sheng Li;Fei Gao;Jiang-xia Li;Qi-ji Liu;
作者机构:[Hui Guo;Ji-sheng Li;Fei Gao;Jiang-xia Li;Qi-ji Liu]Department of Ophthalmology,Qilu hospital of Shandong University;[Hui Guo;Ji-sheng Li;Fei Gao;Jian 更多
会议名称:第十四次全国医学遗传学学术会议
来源:第十四次全国医学遗传学学术会议论文汇编
出版年:2015
关键词:gene;Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa;
摘要:Purpose:Genomic mutations in about 200 genes are associated with hereditary retinal diseases.In this study,we screened for the disease-causing gene mutation in a family with X-linked retinal degenerative disease.Methods:Pedigree data werecollected and genomic DNA was isolated from peripheral blood o...
资源类型:会议论文
原文链接:http://kns.cnki.net/kns/detail/detail.aspx?FileName=ZGYL201511001165&DbName=CPFD2016
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