Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa

פריטים דומים

• Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
  מאת: Dryja, T P, et al.
  יצא לאור: (1995)
• Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa
  מאת: Wang, Le, et al.
  יצא לאור: (2020)
• Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
  מאת: Barragán, Isabel, et al.
  יצא לאור: (2010)
• The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa.
  מאת: Riess, O, et al.
  יצא לאור: (1992)
• Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase
  מאת: Dvir, Liron, et al.
  יצא לאור: (2010)