Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

Lignende værker

• ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
  af: Sangermano, Riccardo, et al.
  Udgivet: (2018)
• Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
  af: Albert, Silvia, et al.
  Udgivet: (2018)
• Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
  af: Sangermano, Riccardo, et al.
  Udgivet: (2019)
• Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease
  af: Runhart, Esmee H., et al.
  Udgivet: (2020)
• Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4
  af: Tomkiewicz, Tomasz Z., et al.
  Udgivet: (2021)