Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian population

Pathol Biol (Paris). 2012 Dec;60(6):e84-6. doi: 10.1016/j.patbio.2012.05.003. Epub 2012 Jun 26.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adolescent
  • Child
  • Child, Preschool
  • Consanguinity
  • Cytoskeletal Proteins
  • Female
  • Gene Deletion*
  • Homozygote*
  • Humans
  • Kidney Diseases, Cystic / congenital
  • Kidney Diseases, Cystic / epidemiology
  • Kidney Diseases, Cystic / genetics
  • Kidney Failure, Chronic / genetics
  • Male
  • Membrane Proteins / genetics*
  • Tunisia / epidemiology
  • Young Adult

Substances

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

Supplementary concepts

  • Nephronophthisis, familial juvenile