斯芬克斯猫和德文力克斯猫先天性肌无力综合征中的COLQ错义突变

资源简介

斯芬克斯猫和德文力克斯猫先天性肌无力综合征中的COLQ错义突变

【数据集背景】

本数据集源站标题为《A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome》。配套论文《A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome》发表于 PLOS ONE（2015），DOI：10.1371/journal.pone.0137019。源站首次发布：2015-09-01。

【数据内容】

源站原始描述：An autosomal recessive neuromuscular disorder characterized by skeletal muscle weakness, fatigability and variable electromyographic or muscular histopathological features has been described in the two related Sphynx and Devon Rex cat breeds (Felis catus). Collection of data from two affected Sphynx cats and their relatives pointed out a single disease candidate region on feline chromosome C2, identified following a genome-wide SNP-based homozygosity mapping strategy. In that region, we further…

【数据结构与技术规格】

文件数 7 个，合计 21.00 MB。S3_Fig.tif：image/tiff，1.19 MB。数据集 DOI：10.1371/journal.pone.0137019。

【主题与分类】

源站学科分类：Uncategorised。主题标签：C 397、COLQ mutations、14 breeds、Congenital Myasthenic Syndrome、81 genotyped Sphynx cats、myasthenic syndrome、DNA test、Autosomal recessive、c .1190G missense mutation、cms。

【适用方向】

源站学科分类标注为 Uncategorised。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/A_COLQ_Missense_Mutation_in_Sphynx_and_Devon_Rex_Cats_with_Congenital_Myasthenic_Syndrome/1532616

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

规范引用：Abitbol, Marie; Hitte, Christophe; Bossé, Philippe; Blanchard-Gutton, Nicolas; Thomas, Anne; Martignat, Lionel; et al. (2016). A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-06-08，引用时请注意版本时效。