ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

Clin. Genet.2017 Jul;92(1):109-111. doi:10.1111/cge.12909. Epub 2017 Feb 06

{{ author.authorName }}^{{{getOrganisationIndexOf(author)}}} {{ author.authorName }}^{{{getOrganisationIndexOf(author)}}}

+ et al

[No authors listed]

Author information

^{{index+1}} {{ organisation }}

摘要

We report a novel ARL2BP splice site mutation after whole-exome sequencing (WES) applied to a Moroccan family including two sisters affected with autosomal recessive rod-cone dystrophy (arRCD). Subsequent analysis of 844 index cases did not reveal further pathogenic chances in ARL2BP indicating that mutations in ARL2B are a rare cause of arRCD (about 0.1%) in a large cohort of French patients.

KEYWORDS: {{ getKeywords(articleDetailText.words) }}

基因功能

{{$index+1}}.{{ gene }}

图表

‹ › ×

原始数据

保存测序数据

Sample name	Organism	Experiment title	Sample type	Library instrument	Attributes
Sample name	Organism	Experiment title	Sample type	Library instrument	{{attr}}
{{ dataList.sampleTitle }}	{{ dataList.organism }}	{{ dataList.expermentTitle }}	{{ dataList.sampleType }}	{{ dataList.libraryInstrument }}	{{ showAttributeName(index,attr,dataList.attributes) }}

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

摘要

基因功能

图表

基因

原始数据

文献解读

分析平台

分析平台

分析流程

{{currentAnalyse.title}}