Corpus ID: 14357963

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene

@article{Pras2009ConerodDA,
  title={Cone-rod dystrophy and a frameshift mutation in the PROM1 gene},
  author={E. Pras and Almogit Abu and Y. Rotenstreich and I. Avni and O. Reish and Y. Morad and H. Reznik-Wolf},
  journal={Molecular Vision},
  year={2009},
  volume={15},
  pages={1709 - 1716}
}
Purpose To identify the genetic cause underlying autosomal recessive cone-rod dystrophy (CORD) and high myopia. Methods Nine members of a consanguineous Arab family were clinically examined and were given fluorescein angiography (FA), biometry, and full field electroretinogram (ERG) testing. Blood samples were collected for DNA extraction. A homozygousity genome-wide scan was performed using >382 polymorphic microsatellite markers on genomic DNA from three affected family members. Regions of… Expand
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