Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome

Pediatr Nephrol. 2009 Sep;24(9):1773-4. doi: 10.1007/s00467-009-1122-0. Epub 2009 Jan 24.
No abstract available

Publication types

  • Letter

MeSH terms

  • Collagen Type IV / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Molecular Diagnostic Techniques / methods*
  • Nephritis, Hereditary / genetics*
  • Nephritis, Hereditary / pathology
  • Nucleic Acid Amplification Techniques / methods*

Substances

  • COL4A5 protein, human
  • Collagen Type IV