Gene symbol: COL4A5. Disease: Alport syndrome

Hum Genet. 2005 Dec;118(3-4):543.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Codon, Nonsense
  • Collagen Type IV / genetics*
  • DNA Mutational Analysis
  • Deafness / etiology
  • Humans
  • Italy
  • Kidney Failure, Chronic / etiology
  • Mutation, Missense*
  • Nephritis, Hereditary / genetics*
  • Pedigree
  • Proteinuria / etiology
  • Proteinuria / genetics

Substances

  • COL4A5 protein, human
  • Codon, Nonsense
  • Collagen Type IV