A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene

Nephrol Dial Transplant. 2004 Jun;19(6):1622-4. doi: 10.1093/ndt/gfh179.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Basement Membrane / pathology
  • Humans
  • Kidney Glomerulus / pathology
  • Lecithin Cholesterol Acyltransferase Deficiency / genetics*
  • Male
  • Mutation
  • Nephrotic Syndrome / genetics*
  • Pedigree