Molecular basis of the first reported clinical case of congenital combined deficiency of coagulation factors

Blood. 2017 Aug 17;130(7):948-951. doi: 10.1182/blood-2017-05-782367. Epub 2017 Jul 5.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Blood Coagulation Factors / metabolism
  • CRISPR-Cas Systems
  • Carbon-Carbon Ligases / deficiency*
  • Carbon-Carbon Ligases / genetics
  • Dose-Response Relationship, Drug
  • Frameshift Mutation*
  • Gene Knockout Techniques
  • Genes, Reporter
  • HEK293 Cells
  • Hemorrhagic Disorders / blood
  • Hemorrhagic Disorders / genetics*
  • Humans
  • Introns / genetics
  • Protein Binding
  • Protein Domains
  • Protein Processing, Post-Translational
  • Protein Stability
  • RNA Splicing / genetics
  • Sequence Deletion*
  • Vitamin K / administration & dosage
  • Vitamin K / pharmacology

Substances

  • Blood Coagulation Factors
  • Vitamin K
  • Carbon-Carbon Ligases
  • glutamyl carboxylase