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American Journal of Human Genetics|March 26, 1999
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt diseaseA Maugeri, M A van Driel, D J van de Pol, et al.
American Journal of Human Genetics|June 5, 2001
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) geneA I den Hollander, J R Heckenlively, L I van den Born, et al.
Nature Genetics|October 3, 1999
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)A I den Hollander, J B ten Brink, Y J de Kok, et al.
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