Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation

Thromb Haemost. 2018 Mar;118(3):617-620. doi: 10.1055/s-0038-1623536. Epub 2018 Feb 7.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Factor VIII / genetics*
  • Family Health
  • Female
  • Gene Deletion
  • Genotype
  • Hemophilia A / genetics*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mosaicism*
  • Mutation
  • Pedigree
  • Phenotype
  • Promoter Regions, Genetic
  • Risk
  • Sequence Deletion

Substances

  • F8 protein, human
  • Factor VIII