| Literature DB >> 27790702 |
I Audo1,2,3, S El Shamieh1,4, C Méjécase1, C Michiels1, V Demontant1, A Antonio1,2, C Condroyer1, F Boyard1, M Letexier5, J-P Saraiva5, S Blanchard5, S Mohand-Saïd1,2, J-A Sahel1,2,3,6,7, C Zeitz1.
Abstract
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.Entities:
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Year: 2017 PMID： 27790702 DOI： 10.1111/cge.12909
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438