Article
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
Investigative ophthalmology & visual science - 1 Nov 2010
Littink Karin W, Koenekoop Robert K, van den Born L Ingeborgh, Collin Rob W J, Moruz Luminita, Veltman Joris A, Roosing Susanne, Zonneveld Marijke N, Omar Amer, Darvish Mahshad, Lopez Irma, Kroes Hester Y, van Genderen Maria M, Hoyng Carel B, Rohrschneider Klaus, van Schooneveld Mary J, Cremers Frans P M, den Hollander Anneke I
Abstract excerpt
PURPOSE: To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients. METHODS: One hundred thirty-nine patients with diagnosed CRD were recruited. Ninety of them were screened for known mutations in ABCA4, and those carrying one or two mutations were excluded from further research. Genome-wide homozygosity mapping was...
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