MAB21L2基因突变导致眼组织缺损、小角膜和白内障

资源简介

MAB21L2基因突变导致眼组织缺损、小角膜和白内障

【数据集背景】

本数据集源站标题为《Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts》。配套论文《Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts》发表于 PLOS Genetics（2015），DOI：10.1371/journal.pgen.1005002。源站首次发布：2015-02-26。

【数据内容】

源站原始描述：Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained. Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the mutation was present in all five family members with the disease and appeared de no…

【数据结构与技术规格】

文件数 7 个，合计 7.04 MB。S1_Table.doc：application/msword，54.78 KB。S2_Table.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，16.40 KB。S1_Fig.tif：image/tiff，976.14 KB。数据集 DOI：10.1371/journal.pgen.1005002。

【主题与分类】

源站学科分类：Biological Sciences。主题标签：Cataracts Ocular coloboma results、mab 21l embryos、mab 21l mutants、Mab 21l、Homozygous zebrafish embryos、talen、MAB 21L encodes、MAB 21L transcript、MAB 21L zebrafish mutants、MAB 21L Result。

【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/Mutations_in_MAB21L2_Result_in_Ocular_Coloboma_Microcornea_and_Cataracts/1319096

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

规范引用：Deml, Brett; Kariminejad, Ariana; H. R. Borujerdi, Razieh; Muheisen, Sanaa; M. Reis, Linda; V. Semina, Elena (2016). Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts. PLOS Genetics. Dataset

【使用注意】

· 源站最后修改于 2023-05-30，引用时请注意版本时效。