Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

Lignende værker

• Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
  af: Riveiro-Alvarez, Rosa, et al.
  Udgivet: (2008)
• Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
  af: Riveiro-Alvarez, R, et al.
  Udgivet: (2009)
• Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
  af: Perez-Carro, Raquel, et al.
  Udgivet: (2016)
• Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
  af: Perez-Carro, Raquel, et al.
  Udgivet: (2016)
• Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families
  af: Riveiro-Alvarez, Rosa, et al.
  Udgivet: (2013)