A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas

Arch Ophthalmol. 2002 Feb;120(2):217-8.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ankyrin Repeat / genetics*
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • DNA Mutational Analysis
  • DNA, Neoplasm / analysis
  • Female
  • Fluorescein Angiography
  • Frameshift Mutation*
  • Hemangioma, Cavernous / genetics*
  • Hemangioma, Cavernous / pathology
  • Humans
  • KRIT1 Protein
  • Magnetic Resonance Imaging
  • Microtubule-Associated Proteins*
  • Proto-Oncogene Proteins / genetics*
  • Retinal Neoplasms / genetics*
  • Retinal Neoplasms / pathology

Substances

  • DNA, Neoplasm
  • KRIT1 Protein
  • KRIT1 protein, human
  • Microtubule-Associated Proteins
  • Proto-Oncogene Proteins