Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a genetically heterogeneous retinal degeneration characterized by photoreceptor death, which results in visual failure. Here, we used a combination of homozygosity mapping and exome sequencing to identify mutations in ARL2BP, which encodes an effector protein of the smal...

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Detalhes bibliográficos
Main Authors: Davidson, Alice E., Schwarz, Nele, Zelinger, Lina, Stern-Schneider, Gabriele, Shoemark, Amelia, Spitzbarth, Benjamin, Gross, Menachem, Laxer, Uri, Sosna, Jacob, Sergouniotis, Panagiotis I., Waseem, Naushin H., Wilson, Robert, Kahn, Richard A., Plagnol, Vincent, Wolfrum, Uwe, Banin, Eyal, Hardcastle, Alison J., Cheetham, Michael E., Sharon, Dror, Webster, Andrew R.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3738823/
https://ncbi.nlm.nih.gov/pubmed/23849777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.06.003
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