Article
Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.
Stroke - 1 Apr 2005
Gault Judith, Shenkar Robert, Recksiek Peter, Awad Issam A
Abstract excerpt
BACKGROUND AND PURPOSE: Cerebral cavernous malformations (CCMs) are focal dysmorphic blood vessel anomalies that predispose patients to hemorrhagic stroke and epilepsy. CCMs are sporadic or inherited and 3 genes (CCM1, CCM2, and CCM3) have been identified. However, the role of somatic mutation in...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Chromatography, High Pressure Liquid
- Exons
- Gene Deletion
- Genetic Markers
- Germ-Line Mutation
- Hemangioma, Cavernous, Central Nervous System
- Hemorrhage
- Humans
- KRIT1 Protein
- Magnetic Resonance Imaging
- Microtubule-Associated Proteins
- Molecular Sequence Data
- Mutation
- Proto-Oncogene Proteins
- RNA