Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

Lignende værker

• Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients
  af: Audo, Isabelle, et al.
  Udgivet: (2010)
• A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
  af: Audo, Isabelle, et al.
  Udgivet: (2011)
• Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy
  af: El Shamieh, Said, et al.
  Udgivet: (2015)
• Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
  af: Audo, Isabelle, et al.
  Udgivet: (2012)
• Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B
  af: Khateb, Samer, et al.
  Udgivet: (2019)