The retinal phenotype associated with the frequent, synonymous c.783G > A mutation in CDHR1

Antzeko izenburuak

• A specific macula-predominant retinal phenotype is associated with the CDHR1 variant c.783G>A, a silent mutation leading to in-frame exon skipping
  nork: Charbel Issa, P, et al.
  Argitaratua: (2019)
• CDHR1 mutations in retinal dystrophies
  nork: Katarina Stingl, et al.
  Argitaratua: (2017-08-01)
• Deep phenotyping of the Cdhr1−/− mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration
  nork: Yusuf, I, et al.
  Argitaratua: (2021)
• CDHR1-related late-onset macular dystrophy: further insights
  nork: Yusuf, IH, et al.
  Argitaratua: (2020)
• Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
  nork: Johannes Birtel, et al.
  Argitaratua: (2018-01-01)