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Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa

  • Author(s): Duncan, Jacque
  • Bowne, SJ
  • Sullivan, LS
  • Avery, CE
  • Sasser, EM
  • Roorda, A
  • Duncan, JL
  • Wheaton, DH
  • Birch, DG
  • Branham, KE
  • Heckenlively, JR
  • et al.

Published Web Location

http://europepmc.org/articles/PMC3850977?pdf=render
No data is associated with this publication.
Abstract

Purpose: The purpose of this project was to determine the spectrum and frequency of mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) that cause autosomal dominant retinitis pigmentosa (adRP). Methods: A well-characterized adRP cohort of 2

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