俄罗斯家族中完全性先天性静止性夜盲症（CSNB1A）的NYX基因新型移码突变

资源简介

俄罗斯家族中完全性先天性静止性夜盲症（CSNB1A）的NYX基因新型移码突变

【数据集背景】

本数据集源站标题为《Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness》。配套论文《Novel frameshift mutation in <i>NYX</i> gene in a Russian family with complete congenital stationary night blindness》发表于 Ophthalmic Genetics（2019），DOI：10.1080/13816810.2019.1698617。源站首次发布：2019-12-12。

【数据内容】

源站原始描述：Background: The complete form of X-linked congenital stationary night blindness (CSNB1A) is a very rare genetic disease caused by mutation in the NYX gene. CSNB1A-associated several mutations in the NYX gene have been reported earlier. Methods: In this case report, we have clinically diagnosed and genetically confirmed a novel mutation associated with CSNB1A in four members of a Russian family. Two male siblings from a family of four siblings (two girls, two boys) with non-progressive stable nig…

【数据结构与技术规格】

文件数 2 个，合计 23.09 KB。iopg_a_1698617_sm1936.xlsx：application/vnd.openxmlformats-officedocument.spreadsheetml.sheet，11.20 KB。iopg_a_1698617_sm1935.xlsx：application/vnd.openxmlformats-officedocument.spreadsheetml.sheet，11.89 KB。数据集 DOI：10.6084/m9.figshare.11357279.v1。

【主题与分类】

源站学科分类：Medicine、Microbiology、Genetics、Molecular Biology、Neuroscience、Cancer。主题标签：Congenital stationary night blindness、NYX、novel mutation、Russia、X-linked inheritance。

【适用方向】

源站学科分类标注为 Medicine、Microbiology、Genetics、Molecular Biology、Neuroscience、Cancer。

【获取与许可】

源站页面：https://tandf.figshare.com/articles/dataset/Novel_frameshift_mutation_in_i_NYX_i_gene_in_a_Russian_family_with_complete_congenital_stationary_night_blindness/11357279

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

规范引用：Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness. Taylor &amp; Francis. Ivanova, Marianna E.; Zolnikova, Inna V.; Gorgisheli, Ketevan V.; Atarshchikov, Dmitry S.; Ghosh, Preetam; Barh, Debmalya

【使用注意】

· 源站最后修改于 2023-06-01，引用时请注意版本时效。