Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy

Nephrol Dial Transplant. 2006 Aug;21(8):2301-3. doi: 10.1093/ndt/gfl277. Epub 2006 Jun 8.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Child
  • Child, Preschool
  • Codon, Nonsense*
  • Cohort Studies
  • Cytoskeletal Proteins
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genes, Recessive
  • Heterozygote
  • Humans
  • Italy / epidemiology
  • Male
  • Membrane Proteins
  • Nephritis, Interstitial / epidemiology
  • Nephritis, Interstitial / genetics*
  • Pedigree
  • Polycystic Kidney Diseases / epidemiology
  • Polycystic Kidney Diseases / genetics*
  • Proteins / genetics*
  • RNA Splice Sites / genetics*
  • Sequence Deletion

Substances

  • Adaptor Proteins, Signal Transducing
  • Codon, Nonsense
  • Cytoskeletal Proteins
  • Membrane Proteins
  • NPHP1 protein, human
  • Proteins
  • RNA Splice Sites