Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation

Hum Genet. 2007 Dec;122(5):549.
No abstract available

MeSH terms

  • Central Nervous System Neoplasms / genetics*
  • Hemangioma, Cavernous, Central Nervous System / genetics*
  • Humans
  • Introns
  • KRIT1 Protein
  • Microtubule-Associated Proteins / genetics*
  • Point Mutation*
  • Proto-Oncogene Proteins / genetics*
  • RNA Splicing

Substances

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