Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome

Nephrology (Carlton). 2015 Aug;20(8):580. doi: 10.1111/nep.12430.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Autoantigens / genetics*
  • Child
  • Child, Preschool
  • Collagen Type IV / genetics*
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation*
  • Nephritis, Hereditary / diagnosis
  • Nephritis, Hereditary / genetics*
  • Pedigree
  • Phenotype

Substances

  • Autoantigens
  • Collagen Type IV
  • Genetic Markers
  • type IV collagen alpha3 chain