Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH)

Prenat Diagn. 2002 Jan;22(1):80-1. doi: 10.1002/pd.231.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Female
  • Histiocytosis, Non-Langerhans-Cell / diagnosis*
  • Histiocytosis, Non-Langerhans-Cell / genetics*
  • Humans
  • Membrane Glycoproteins / genetics*
  • Mutation*
  • Perforin
  • Pore Forming Cytotoxic Proteins
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • Membrane Glycoproteins
  • Pore Forming Cytotoxic Proteins
  • Perforin