两个与扇形视网膜色素变性相关的新遗传关联：USH2A和PRPF31

资源简介

两个与扇形视网膜色素变性相关的新遗传关联：USH2A和PRPF31

【数据集背景】

本数据集源站标题为《Two novel genetic associations with sector retinitis pigmentosa: USH2A and PRPF31》。配套论文《Two novel genetic associations with sector retinitis pigmentosa:

<i>USH2A</i>

and

<i>PRPF31</i>》发表于 Ophthalmic Genetics（2026），DOI：10.1080/13816810.2026.2620809。项目资助方：The author(s) reported there is no funding associated with the work featured in this article.。源站首次发布：2026-03-05。

【数据内容】

源站原始描述：Sector retinitis pigmentosa (RP) is an attenuated phenotype in comparison to classic pan-retinal disease. The inferior retina is most often affected, though other quadrants may become involved with time, particularly with more damaging genetic variants. Sector RP has been described in association with several known genotypes, most commonly RHO. Case series of patients with a sector RP phenotype (and any affected family) and review of the literature. We describe two new genetic associations of se…

【数据结构与技术规格】

文件数 4 个，合计 14.50 MB。iopg_a_2620809_sm8043.tif：image/tiff，613.15 KB。数据集 DOI：10.6084/m9.figshare.31524473.v1。

【主题与分类】

源站学科分类：Biophysics、Space Science、Medicine、Genetics、Molecular Biology、Pharmacology。主题标签：USH2A、PRPF31、sector retinitis pigmentosa。

【适用方向】

源站学科分类标注为 Biophysics、Space Science、Medicine、Genetics、Molecular Biology、Pharmacology。

【获取与许可】

源站页面：https://tandf.figshare.com/articles/dataset/Two_novel_genetic_associations_with_sector_retinitis_pigmentosa_i_USH2A_i_and_i_PRPF31_i_/31524473

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

规范引用：Two novel genetic associations with sector retinitis pigmentosa: USH2A and PRPF31. Taylor &amp; Francis. Dhanji, Shanil R.; Stephenson, Kirk A. J.; Gregory-Evans, Cheryl Y.; Gregory-Evans, Kevin

【使用注意】

· 源站最后修改于 2026-05-21，引用时请注意版本时效。