拉布拉多犬先天性肌无力综合征中的COLQ错义突变

资源简介

拉布拉多犬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 Labrador Retrievers Having Congenital Myasthenic Syndrome》。配套论文《A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome》发表于 PLoS ONE（2014），DOI：10.1371/journal.pone.0106425。源站首次发布：2014-08-28。

【数据内容】

源站原始描述：Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ). CMSs are rarely encountered in veterinary medicine, and causative mutations have only been identified in Old Danish Pointing Dogs and Brahman cattle to date. Herein, we characterize a novel CMS in 2 Labrador Retriever littermates with an early onset of marked generalized muscle weakness. Bec…

【数据结构与技术规格】

文件数 3 个，合计 37.77 MB。Table_S1.pdf：application/pdf，85.82 KB。Table_S3.pdf：application/pdf，315.79 KB。数据集 DOI：10.1371/journal.pone.0106425。

【主题与分类】

源站学科分类：Biological Sciences。主题标签：dam share 2、COLQ mutation、337T、autosomal recessive transmission、Illumina HD array、snp、2 Labrador Retriever littermates、cms、Congenital Myasthenic Syndrome Congenital myasthenic syndromes、c .1010T。

【适用方向】

源站学科分类标注为 Biological Sciences。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/A_COLQ_Missense_Mutation_in_Labrador_Retrievers_Having_Congenital_Myasthenic_Syndrome/1154602

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

规范引用：J. Rinz, Caitlin; Levine, Jonathan; M. Minor, Katie; D. Humphries, Hammon; Lara, Renee; N. Starr-Moss, Alison; et al. (2016). A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-06-01，引用时请注意版本时效。