Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

Liknande verk

• Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing
  av: González-del Pozo, María, et al.
  Publicerad: (2011)
• Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
  av: Barragán, Isabel, et al.
  Publicerad: (2010)
• Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation
  av: Bernal, S, et al.
  Publicerad: (2003)
• Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family
  av: González-del Pozo, María, et al.
  Publicerad: (2014)
• Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
  av: María González-del Pozo, et al.
  Publicerad: (2014-01-01)