Phenotypic Characterization of 3 Families With Autosomal Dominant Retinitis Pigmentosa Due to Mutations in KLHL7

Lignende værker

• Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
  af: Bowne, Sara J., et al.
  Udgivet: (2008)
• Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa
  af: Daiger, Stephen P., et al.
  Udgivet: (2015)
• Genomic Rearrangements of the PRPF31 Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa
  af: Sullivan, Lori S., et al.
  Udgivet: (2006)
• Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene
  af: KOZMA, PETRA, et al.
  Udgivet: (2005)
• Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
  af: Friedman, James S., et al.
  Udgivet: (2009)