Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.

@article{Tang2008ThreeVG,
  title={Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.},
  author={Yongming G Tang and Yoana J Picornell and Xiaowen Su and Xiaohui Li and Huiying Yang and Yaron S. Rabinowitz},
  journal={Cornea},
  year={2008},
  volume={27 2},
  pages={189-92}
}
PURPOSE Three mutations, L159M, R166W, and H244R, in the VSX1 gene have been recently reported to be associated with keratoconus by direct sequencing in familial panels. In an attempt to confirm this observation, we surveyed the same mutations of the VSX1 gene for a white sporadic keratoconus case-control panel and a larger familial panel to test its association with keratoconus. METHODS A case-control panel, with 77 keratoconus patients and 71 healthy controls, and a keratoconus familial… CONTINUE READING

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