Deficiencies in factors IX and VIII: what is now known

Hosp Pract (Off Ed). 1992 Feb 15;27(2):41-51. doi: 10.1080/21548331.1992.11705358.

Abstract

Genetic defects both gross and subtle have recently been identified in about 900 patients with hemophilia A or B. The defects, which include deletions, insertions, and point mutations, reveal much about genetic structure-function relationships in hemophilia. These insights will lead to improved treatment of bleeding disorders and perhaps to their cure.

Publication types

  • Review

MeSH terms

  • Base Sequence
  • Chromosome Aberrations*
  • Factor IX / genetics
  • Factor VIII / genetics
  • Genetic Therapy
  • Hemophilia A / genetics*
  • Hemophilia A / therapy
  • Hemophilia B / genetics*
  • Hemophilia B / therapy
  • Humans
  • Molecular Sequence Data
  • Mutation

Substances

  • Factor VIII
  • Factor IX