Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults

Nephrol Dial Transplant. 2006 Sep;21(9):2660-3. doi: 10.1093/ndt/gfl348. Epub 2006 Jun 17.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Cytoskeletal Proteins
  • DNA / genetics*
  • Female
  • Follow-Up Studies
  • Gene Deletion*
  • Homozygote
  • Humans
  • Kidney Diseases, Cystic / complications
  • Kidney Diseases, Cystic / genetics*
  • Kidney Diseases, Cystic / metabolism
  • Kidney Failure, Chronic / etiology*
  • Kidney Failure, Chronic / genetics
  • Kidney Failure, Chronic / metabolism
  • Male
  • Membrane Proteins
  • Polymerase Chain Reaction
  • Proteins / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • Membrane Proteins
  • NPHP1 protein, human
  • Proteins
  • DNA