EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden

Lignende værker

• Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden
  af: Golovleva, Irina, et al.
  Udgivet: (2010)
• Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa
  af: Jonsson, Frida, et al.
  Udgivet: (2018)
• Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations
  af: Arai, Yuuki, et al.
  Udgivet: (2015)
• Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
  af: Barragán, Isabel, et al.
  Udgivet: (2010)
• EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa
  af: Abd El-Aziz, Mai M, et al.
  Udgivet: (2008)