Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

@article{Littink2010HomozygosityMI,
  title={Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.},
  author={Karin W. Littink and Robert Koenekoop and L. Ingeborgh van den Born and Rob W J Collin and Luminita Moruz and Joris A. Veltman and Susanne Roosing and Marijke N. Zonneveld and Amer Omar and Mahshad Darvish and I. L{\'o}pez and Hester Y. Kroes and Maria M. van Genderen and Carel B. Hoyng and Klaus Rohrschneider and Mary J van Schooneveld and Frans P. M. Cremers and Anneke I. den Hollander},
  journal={Investigative ophthalmology & visual science},
  year={2010},
  volume={51 11},
  pages={5943-51}
}
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 performed in the remaining 108. Known genes associated with autosomal recessive retinal… CONTINUE READING

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