Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency

Pediatr Int. 2011 Apr;53(2):e16-9. doi: 10.1111/j.1442-200X.2010.03259.x.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Codon, Nonsense*
  • Complement C3 / analysis
  • Complement C3 / deficiency*
  • Complement C3 / genetics*
  • Exons / genetics
  • Heterozygote
  • Humans
  • Male
  • Metabolism, Inborn Errors / genetics*
  • Mutation
  • RNA Splice Sites / genetics*
  • Sequence Analysis, DNA

Substances

  • Codon, Nonsense
  • Complement C3
  • RNA Splice Sites