Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

Eitemau Tebyg

• Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
  gan: Riveiro-Alvarez, R, et al.
  Cyhoeddwyd: (2009)
• Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
  gan: Ávila-Fernández, Almudena, et al.
  Cyhoeddwyd: (2010)
• Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families
  gan: Riveiro-Alvarez, Rosa, et al.
  Cyhoeddwyd: (2013)
• Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
  gan: Riveiro-Alvarez, R., et al.
  Cyhoeddwyd: (2007)
• Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa
  gan: Bernal, S, et al.
  Cyhoeddwyd: (2003)