Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies

Lignende værker

• Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations
  af: Riera, Marina, et al.
  Udgivet: (2019)
• Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4
  af: Abad-Morales, Víctor, et al.
  Udgivet: (2020)
• Panel‐based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns
  af: Riera, Marina, et al.
  Udgivet: (2017)
• Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
  af: María González-del Pozo, et al.
  Udgivet: (2014-01-01)
• Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
  af: Pozo, María González-del, et al.
  Udgivet: (2014)