A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant

Lignende værker

• Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa
  af: Wang, Le, et al.
  Udgivet: (2020)
• Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X)
  af: Mizobuchi, Kei, et al.
  Udgivet: (2018)
• Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa
  af: Paloma, E, et al.
  Udgivet: (2002)
• Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy
  af: Shaikh, Rehan S, et al.
  Udgivet: (2015)
• Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa
  af: Katagiri, Satoshi, et al.
  Udgivet: (2014)