Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

類似資料

• Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
  著者:: Riveiro-Alvarez, Rosa, 等
  出版事項: (2008)
• Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families
  著者:: Riveiro-Alvarez, Rosa, 等
  出版事項: (2013)
• Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants
  著者:: Aguirre-Lamban, J, 等
  出版事項: (2009)
• Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
  著者:: Ávila-Fernández, Almudena, 等
  出版事項: (2010)
• Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
  著者:: Riveiro-Alvarez, R., 等
  出版事項: (2007)