Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

Samankaltaisia teoksia

• Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden
  Tekijä: Golovleva, Irina, et al.
  Julkaistu: (2010)
• Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa
  Tekijä: Daiger, Stephen P., et al.
  Julkaistu: (2015)
• Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa
  Tekijä: Jonsson, Frida, et al.
  Julkaistu: (2018)
• Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
  Tekijä: Bowne, Sara J., et al.
  Julkaistu: (2008)
• MUTATIONS IN KNOWN GENES ACCOUNT FOR 58% OF AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (adRP)
  Tekijä: Daiger, Stephen P., et al.
  Julkaistu: (2008)