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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… Click to show full 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.
Keywords:
splice;
report novel;
autosomal recessive;
rod cone;
recessive rod
Journal Title: Clinical Genetics
Year Published: 2017
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Journal Title: Clinical Genetics
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!