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An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT. Henderson RH, et al. Among authors: van der spuy j. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5684-9. doi: 10.1167/iovs.07-0207. Invest Ophthalmol Vis Sci. 2007. PMID: 18055820 Free article.
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
Sacristan-Reviriego A, Bellingham J, Prodromou C, Boehm AN, Aichem A, Kumaran N, Bainbridge J, Michaelides M, van der Spuy J. Sacristan-Reviriego A, et al. Among authors: van der spuy j. Hum Mol Genet. 2018 Apr 1;27(7):1309. doi: 10.1093/hmg/ddy024. Hum Mol Genet. 2018. PMID: 29351602 Free PMC article. No abstract available.
74 results