Clinical utility gene card for: Alport syndrome - update 2014

Eur J Hum Genet. 2015 Sep;23(9). doi: 10.1038/ejhg.2014.254. Epub 2014 Nov 12.
No abstract available

MeSH terms

  • Autoantigens / genetics*
  • Collagen Type IV / genetics*
  • Gene Expression
  • Genes, Recessive
  • Humans
  • Incidence
  • Mutation*
  • Nephritis, Hereditary / diagnosis*
  • Nephritis, Hereditary / epidemiology
  • Nephritis, Hereditary / genetics*
  • Nephritis, Hereditary / pathology
  • Sex Factors
  • United Kingdom / epidemiology

Substances

  • Autoantigens
  • COL4A4 protein, human
  • COL4A5 protein, human
  • Collagen Type IV
  • type IV collagen alpha3 chain