CD1基因多态性与X连锁肾上腺脑白质营养不良表型变异

资源简介

CD1基因多态性与X连锁肾上腺脑白质营养不良表型变异

【数据集背景】

本数据集源站标题为《CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy》。配套论文《CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy》发表于 PLoS ONE（2012），DOI：10.1371/journal.pone.0029872。源站首次发布：2012-01-12。

【数据内容】

源站原始描述：X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD). X-ALD is caused by mutations in the ABCD1 gene, but no genotype-phenotype correlation has been established so far and modifier gene variants are suspected to modulate phenotypes. Specific classes of lipids, enriched in very long-chain fatty acids that accumulate in plasma and tissues from X-ALD patients are suspected to be involved in t…

【数据结构与技术规格】

文件数 3 个，合计 141.31 KB。Figure_S1.doc：application/msword，72.19 KB。Table_S1.doc：application/msword，33.28 KB。Table_S2.doc：application/msword，35.84 KB。数据集 DOI：10.1371/journal.pone.0029872。

【主题与分类】

源站学科分类：Neuroscience、Genetics、Biotechnology、Immunology。主题标签：polymorphisms、phenotypic、variability、x-linked、adrenoleukodystrophy。

【适用方向】

源站学科分类标注为 Neuroscience、Genetics、Biotechnology、Immunology。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/_CD1_Gene_Polymorphisms_and_Phenotypic_Variability_in_X_Linked_Adrenoleukodystrophy/129686

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

规范引用：Barbier, Mathieu; Sabbagh, Audrey; Kasper, Edwige; Asheuer, Muriel; Ahouansou, Ornella; Pribill, Ingrid; et al. (2016). CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-05-31，引用时请注意版本时效。