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Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
  1. Terri L McGee1,2,
  2. Babak Jian Seyedahmadi1,
  3. Meredith O Sweeney1,
  4. Thaddeus P Dryja1,
  5. Eliot L Berson2
  1. 1The Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, USA
  2. 2The Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, USA
  1. Correspondence to Eliot L Berson, Berman-Gund Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA; Linda_Berard{at}meei.harvard.edu

Footnotes

  • Funding This work was supported by the US National Institutes of Health grants NIH-EY00169, NIH-EY08683, and P30-EY014104, and The Foundation Fighting Blindness, Owings Mills, MD.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study was conducted with the approval of the IRBs of both Harvard Medical School, Boston, MA and the Massachusetts Eye and Ear Infirmary, Boston, MA.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • Funding This work was supported by the US National Institutes of Health grants NIH-EY00169, NIH-EY08683, and P30-EY014104, and The Foundation Fighting Blindness, Owings Mills, MD.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study was conducted with the approval of the IRBs of both Harvard Medical School, Boston, MA and the Massachusetts Eye and Ear Infirmary, Boston, MA.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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