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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128700/
https://www.ncbi.nlm.nih.gov/pubmed/30210231

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128700/
https://www.ncbi.nlm.nih.gov/pubmed/30210231

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