Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome

Am J Hum Genet. 2000 May;66(5):1721-2. doi: 10.1086/302877.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Complement Factor H / chemistry
  • Complement Factor H / deficiency
  • Complement Factor H / genetics*
  • Exons / genetics
  • Genes, Dominant / genetics
  • Genes, Recessive / genetics*
  • Genetic Linkage / genetics
  • Genotype
  • Hemolytic-Uremic Syndrome / genetics*
  • Hemolytic-Uremic Syndrome / physiopathology
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics*
  • Phenotype
  • Sequence Alignment

Substances

  • CFH protein, human
  • Complement Factor H