Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

Pediatr Nephrol. 2010 Oct;25(10):2193-4. doi: 10.1007/s00467-010-1539-5. Epub 2010 May 8.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Age of Onset
  • Child
  • Child, Preschool
  • Cytoskeletal Proteins
  • Egypt
  • Female
  • Gene Deletion
  • Homozygote
  • Humans
  • Infant
  • Kidney Diseases, Cystic / congenital
  • Kidney Diseases, Cystic / genetics
  • Male
  • Membrane Proteins / genetics*
  • Polymerase Chain Reaction

Substances

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

Supplementary concepts

  • Nephronophthisis, familial juvenile