Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

Lignende værker

• Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
  af: Audo, Isabelle, et al.
  Udgivet: (2010)
• 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)
• Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy
  af: El Shamieh, Said, et al.
  Udgivet: (2014)
• Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein
  af: Shomi S. Bhattacharya, et al.
  Udgivet: (2013-07-01)
• Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein
  af: Doumanov, Jordan A., et al.
  Udgivet: (2013)