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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

  • Author(s): Moore, Anthony
  • Lenassi, E
  • Vincent, A
  • Li, Z
  • Saihan, Z
  • Coffey, AJ
  • Steele-Stallard, HB
  • Moore, AT
  • Steel, KP
  • Luxon, LM
  • Héon, E
  • et al.

Published Web Location

http://europepmc.org/articles/PMC4592079?pdf=render
No data is associated with this publication.
Abstract

Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing compl

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