Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts

Hum Mutat. 1998;11(1):18-22. doi: 10.1002/(SICI)1098-1004(1998)11:1<18::AID-HUMU3>3.0.CO;2-H.
No abstract available

MeSH terms

  • Alternative Splicing
  • Amino Acid Sequence
  • Chromosome Inversion
  • DNA Mutational Analysis
  • Factor VIII / genetics*
  • Frameshift Mutation
  • Hemophilia A / genetics*
  • Humans
  • Introns / genetics
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Point Mutation
  • RNA, Messenger / metabolism
  • Transcription, Genetic*

Substances

  • RNA, Messenger
  • Factor VIII