Alport syndrome in a Kazakh family: a case study

J Genet. 2014 Dec;93(3):855-8. doi: 10.1007/s12041-014-0448-y.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Collagen Type IV / genetics*
  • Female
  • Humans
  • Kazakhstan
  • Male
  • Middle Aged
  • Mutation*
  • Nephritis, Hereditary / genetics*
  • Nephritis, Hereditary / physiopathology
  • Pedigree
  • Sequence Analysis, DNA

Substances

  • COL4A5 protein, human
  • Collagen Type IV