Ontology highlight
ABSTRACT:
SUBMITTER: Littink KW
PROVIDER: S-EPMC3061516 | biostudies-literature | 2010 Nov
REPOSITORIES: biostudies-literature
Littink Karin W KW Koenekoop Robert K RK van den Born L Ingeborgh LI Collin Rob W J RW Moruz Luminita L Veltman Joris A JA Roosing Susanne S Zonneveld Marijke N MN Omar Amer A Darvish Mahshad M Lopez Irma I Kroes Hester Y HY van Genderen Maria M MM Hoyng Carel B CB Rohrschneider Klaus K van Schooneveld Mary J MJ Cremers Frans P M FP den Hollander Anneke I AI
Investigative ophthalmology & visual science 20100616 11
<h4>Purpose</h4>To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients.<h4>Methods</h4>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 performed in the remaining 108. Known genes associated with autosomal recess ...[more]