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Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma.
Micheal S, Ayub H, Islam F, Siddiqui SN, Khan WA, Akhtar F, Qamar R, Khan MI, den Hollander AI. Micheal S, et al. Among authors: den hollander ai. PLoS One. 2015 Dec 29;10(12):e0145005. doi: 10.1371/journal.pone.0145005. eCollection 2015. PLoS One. 2015. PMID: 26713451 Free PMC article.
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
Bandah-Rozenfeld D, Collin RW, Banin E, van den Born LI, Coene KL, Siemiatkowska AM, Zelinger L, Khan MI, Lefeber DJ, Erdinest I, Testa F, Simonelli F, Voesenek K, Blokland EA, Strom TM, Klaver CC, Qamar R, Banfi S, Cremers FP, Sharon D, den Hollander AI. Bandah-Rozenfeld D, et al. Among authors: den hollander ai. Am J Hum Genet. 2010 Aug 13;87(2):199-208. doi: 10.1016/j.ajhg.2010.07.004. Epub 2010 Jul 30. Am J Hum Genet. 2010. PMID: 20673862 Free PMC article.
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
Khan MI, Kersten FF, Azam M, Collin RW, Hussain A, Shah ST, Keunen JE, Kremer H, Cremers FP, Qamar R, den Hollander AI. Khan MI, et al. Among authors: den hollander ai. Ophthalmology. 2011 Jul;118(7):1444-8. doi: 10.1016/j.ophtha.2010.10.047. Epub 2011 Feb 18. Ophthalmology. 2011. PMID: 21310491
292 results