与猫先天性肌强直相关的新型CLCN1突变数据集

资源简介

与猫先天性肌强直相关的新型CLCN1突变数据集

【数据集背景】

本数据集源站标题为《A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita》。配套论文《A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita》发表于 PLoS ONE（2014），DOI：10.1371/journal.pone.0109926。源站首次发布：2014-10-30。

【数据内容】

源站原始描述：Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1∶100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1). CLCN1 encodes for the most abundant chloride channel in the skeletal muscle cell membrane. Five random bred cats from Winnipeg…

【数据结构与技术规格】

文件数 9 个，合计 176.77 MB。Figure_S1.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，140.19 KB。Figure_S2.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，224.48 KB。Table_S1.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，113.06 KB。数据集 DOI：10.1371/journal.pone.0109926。

【主题与分类】

源站学科分类：Biological Sciences。主题标签：channel formation、chloride channels、jaw motion、chloride channel、Novel Mutation、CLCN 1、mutation、muscle chloride channel、muscle channelopathy、fiber types。

【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_Novel_Mutation_in_CLCN1_Associated_with_Feline_Myotonia_Congenita/1224271

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

规范引用：Gandolfi, Barbara; J. Daniel, Rob; P. O''Brien, Dennis; Guo, Ling T.; D. Youngs, Melanie; B. Leach, Stacey; et al. (2016). A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-06-05，引用时请注意版本时效。