Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing

Ítems similars

• Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
  per: Gamundi, María José, et al.
  Publicat: (2006)
• Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa
  per: Blanco-Kelly, Fiona, et al.
  Publicat: (2012)
• High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population
  per: Gamundi, María José, et al.
  Publicat: (2007)
• Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
  per: Sung, C H, et al.
  Publicat: (1991)
• Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population
  per: Millá, Elena, et al.
  Publicat: (2013)