Article
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Investigative ophthalmology & visual science - 6 Apr 2011
Collin Rob W J, van den Born L Ingeborgh, Klevering B Jeroen, de Castro-Miró Marta, Littink Karin W, Arimadyo Kentar, Azam Maleeha, Yazar Volkan, Zonneveld Marijke N, Paun Codrut C, Siemiatkowska Anna M, Strom Tim M, Hehir-Kwa Jayne Y, Kroes Hester Y, de Faber Jan-Tjeerd H N, van Schooneveld Mary J, Heckenlively John R, Hoyng Carel B, den Hollander Anneke I, Cremers Frans P M
Abstract excerpt
PURPOSE: To determine the genetic defects underlying autosomal recessive retinitis pigmentosa (arRP) in the Dutch population and in a subset of patients originating from other countries. The hypothesis was that, because there has been little migration over the past centuries in certain areas of The Netherlands, a significant fraction of Dutch arRP patients carry their genetic defect in the homozygous state....
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