Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.

@article{Yi2012EvaluationOT,
  title={Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.},
  author={Junhui Yi and Shiqiang Li and Xiaoyun Jia and Xueshan Xiao and Panfeng Wang and Xiangming Guo and Qingjiong Zhang},
  journal={Molecular medicine reports},
  year={2012},
  volume={6 5},
  pages={1045-9}
}
Mutations in the ATP-binding cassette, subfamily A, member 4 (ABCA4), elongation of very long chain fatty acids 4 (ELOVL4) and peripherin-2 (PRPH2) genes have been identified in patients with Stargardt macular degeneration (STGD). The aim of this study was to investigate which of these genes is responsible for susceptibility in Chinese patients. A total of 41 probands with STGD or suspected STGD were enrolled in the study. The coding regions and adjacent intronic sequences of the ELOVL4 and… CONTINUE READING
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Novel mutations in of the ABCR gene in Italian patients with Stargardt disease

  • I Passerini, A Sodi, B Giambene, A Mariottini, U Menchini, F Torricelli
  • Eye (Lond)
  • 2010
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