Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

PURPOSE: 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 next-generation sequencing to reveal addi...

詳細記述

保存先:
書誌詳細
出版年:Mol Vis
主要な著者: Fiorentino, Alessia, Yu, Jing, Arno, Gavin, Pontikos, Nikolas, Halford, Stephanie, Broadgate, Suzanne, Michaelides, Michel, Carss, Keren J., Raymond, F. Lucy, Cheetham, Michael E., Webster, Andrew R., Downes, Susan M., Hardcastle, Alison J.
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2018
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6128700/
https://ncbi.nlm.nih.gov/pubmed/30210231
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