Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism

Eur J Pediatr. 2005 Mar;164(3):177-9. doi: 10.1007/s00431-004-1582-y. Epub 2004 Nov 23.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Child
  • Child, Preschool
  • Codon, Nonsense
  • Complement C6 / deficiency*
  • Consanguinity
  • Crystallins
  • Exons
  • Homozygote
  • Humans
  • Male
  • Membrane Proteins / genetics
  • Meningitis, Meningococcal / immunology*
  • Neisseria meningitidis
  • Sequence Deletion
  • Siblings

Substances

  • CRYBG1 protein, human
  • Codon, Nonsense
  • Complement C6
  • Crystallins
  • Membrane Proteins