一个自发性犬类视网膜色素变性模型中推定的沉默子变异

资源简介

一个自发性犬类视网膜色素变性模型中推定的沉默子变异

【数据集背景】

本数据集源站标题为《A putative silencer variant in a spontaneous canine model of retinitis pigmentosa》。配套论文《A putative silencer variant in a spontaneous canine model of retinitis pigmentosa》发表于 PLOS Genetics（2020），DOI：10.1371/journal.pgen.1008659。源站首次发布：2020-03-09。

【数据内容】

源站原始描述：Retinitis pigmentosa (RP) is the leading cause of blindness with nearly two million people affected worldwide. Many genes have been implicated in RP, yet in 30–80% of the RP patients the genetic cause remains unknown. A similar phenotype, progressive retinal atrophy (PRA), affects many dog breeds including the Miniature Schnauzer. We performed clinical, genetic and functional experiments to identify the genetic cause of PRA in the breed. The age of onset and pattern of disease progression sugges…

【数据结构与技术规格】

文件数 8 个，合计 1.09 MB。pgen.1008659.s001.tif：image/tiff，435.18 KB。pgen.1008659.s002.pdf：application/pdf，33.28 KB。pgen.1008659.s003.tif：image/tiff，482.54 KB。数据集 DOI：10.1371/journal.pgen.1008659。

【主题与分类】

源站学科分类：Biochemistry、Medicine、Genetics、Molecular Biology、Environmental Sciences not elsewhere classified、Ecology。主题标签：RP、genome-wide association study、degeneration、retinitis pigmentosa Retinitis pigmentosa、sequence increases expression、type 1 form、gene、breed、reverse-transcriptase PCR assay、type 1 PRA。

【适用方向】

源站学科分类标注为 Biochemistry、Medicine、Genetics、Molecular Biology、Environmental Sciences not elsewhere classified、Ecology。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/A_putative_silencer_variant_in_a_spontaneous_canine_model_of_retinitis_pigmentosa/11958405

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Kaukonen, Maria; Quintero, Ileana B.; Mukarram, Abdul Kadir; Hytönen, Marjo K.; Holopainen, Saila; Wickström, Kaisa; et al. (2020). A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PLOS Genetics. Dataset

【使用注意】

· 源站最后修改于 2023-05-31，引用时请注意版本时效。