Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
<p><strong>Purpose:</strong> Mutations in ARL2BP, encoding ADP-ribosylation factor-like 2 binding protein, have recently been implicated as a cause of autosomal recessive retinitis pigmentosa (arRP), with three homozygous variants identified to date. In this study, we performed nex...
Main Authors: | , , , , , , , , , , , , , , |
---|---|
Format: | Journal article |
Language: | English |
Published: |
Molecular Vision
2018
|