Article
Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.
Neurosurgery - 1 Nov 2005
Guclu Bulent, Ozturk Ali K, Pricola Katie L, Bilguvar Kaya, Shin Dana, O'Roak Brian J, Gunel Murat
Abstract excerpt
OBJECTIVE: To identify the CCM3 gene in a population of 61 families with a positive family history of cerebral cavernous malformations (CCM), 8 of which had suggestive linkage to the CCM3 locus. METHODS: We searched for mutations within the CCM3 interval using a high-throughput screening technique, temperature-gradient capillary electrophoresis. Mutations detected by this device were subsequently sequenced, and...
Topics
- Apoptosis Regulatory Proteins
- DNA Mutational Analysis
- Electrophoresis, Capillary
- Exons
- Family Health
- Female
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Male
- Membrane Proteins
- Mutation