Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Lignende værker

• Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
  af: Boulanger-Scemama, Elise, et al.
  Udgivet: (2019)
• 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)
• Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
  af: Méjécase, Cécile, et al.
  Udgivet: (2016)
• WDR34, a candidate gene for non-syndromic rod-cone dystrophy
  af: Solaguren-Beascoa, Maria, et al.
  Udgivet: (2020)