Article
Cerebral cavernous malformations: mutations in Krit1.
Neurology - 26 Mar 2002
Verlaan D J, Davenport W J, Stefan H, Sure U, Siegel A M, Rouleau G A
Abstract excerpt
OBJECTIVE: To find mutations in the recently identified additional exons of the Krit1 gene that causes CCM1, a disease characterized by the formation of cerebral cavernous malformations (CCM). To determine the relative frequency with which Krit1 mutations cause CCM as well as recharacterize the m...
Topics
- Ankyrin Repeat
- Central Nervous System Neoplasms
- Exons
- Female
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Male
- Microtubule-Associated Proteins
- Mutation
- Pedigree
- Proto-Oncogene Proteins