Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

J Med Genet. 2003 Jan;40(1):e8. doi: 10.1136/jmg.40.1.e8.
No abstract available

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Substitution / genetics
  • Codon, Nonsense / genetics
  • DNA Mutational Analysis / methods
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Gene Frequency / genetics
  • Genes, Recessive / genetics*
  • Genetic Variation / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Pedigree
  • Phenotype
  • Polymorphism, Genetic / genetics
  • Retinitis Pigmentosa / genetics*
  • Spain

Substances

  • Codon, Nonsense
  • Extracellular Matrix Proteins
  • USH2A protein, human