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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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Huvudupphovsmän: | , , , , , , , , , , , , , , , , , , , |
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Materialtyp: | Artigo |
Språk: | Inglês |
Publicerad: |
Elsevier
2013
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Ämnen: | |
Länkar: | 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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