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PubMed (OMIM) for id: 23568
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ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure.
Mol Biol Cell. 2018 Jul 1;29(13):1590-1598. doi: 10.1091/mbc.E18-01-0040. Epub 2018 May 2.
Mol Biol Cell. 2018.
PMID: 29718757
Free PMC article.
ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.
Audo I, El Shamieh S, Méjécase C, Michiels C, Demontant V, Antonio A, Condroyer C, Boyard F, Letexier M, Saraiva JP, Blanchard S, Mohand-Saïd S, Sahel JA, Zeitz C.
Audo I, et al.
Clin Genet. 2017 Jul;92(1):109-111. doi: 10.1111/cge.12909. Epub 2017 Feb 6.
Clin Genet. 2017.
PMID: 27790702
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Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.
Davidson AE, Schwarz N, Zelinger L, Stern-Schneider G, Shoemark A, Spitzbarth B, Gross M, Laxer U, Sosna J, Sergouniotis PI, Waseem NH, Wilson R, Kahn RA, Plagnol V, Wolfrum U, Banin E, Hardcastle AJ, Cheetham ME, Sharon D, Webster AR.
Davidson AE, et al.
Am J Hum Genet. 2013 Aug 8;93(2):321-9. doi: 10.1016/j.ajhg.2013.06.003. Epub 2013 Jul 11.
Am J Hum Genet. 2013.
PMID: 23849777
Free PMC article.
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The ARF-like 2 (ARL2)-binding protein, BART. Purification, cloning, and initial characterization.
Sharer JD, Kahn RA.
Sharer JD, et al.
J Biol Chem. 1999 Sep 24;274(39):27553-61. doi: 10.1074/jbc.274.39.27553.
J Biol Chem. 1999.
PMID: 10488091
Free article.
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