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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA. den Hollander AI, et al. Among authors: ten brink jb. Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848. Nat Genet. 1999. PMID: 10508521
Mutations in ABCC6 cause pseudoxanthoma elasticum.
Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PT. Bergen AA, et al. Among authors: ten brink jb. Nat Genet. 2000 Jun;25(2):228-31. doi: 10.1038/76109. Nat Genet. 2000. PMID: 10835643
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.
Assink JJ, de Backer E, ten Brink JB, Kohno T, de Jong PT, Bergen AA, Meire F. Assink JJ, et al. Among authors: ten brink jb. Br J Ophthalmol. 2000 Jul;84(7):682-6. doi: 10.1136/bjo.84.7.682. Br J Ophthalmol. 2000. PMID: 10873973 Free PMC article.
57 results