Mutation and expression analysis of theKRIT1gene associated with cerebral cavernous malformations (CCM1)
โ Scribed by Hildegard Kehrer-Sawatzki; Monika Wilda; Veit M. Braun; Hans-Peter Richter; Horst Hameister
- Publisher
- Springer-Verlag
- Year
- 2002
- Tongue
- English
- Weight
- 294 KB
- Volume
- 104
- Category
- Article
- ISSN
- 0001-6322
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Cerebral cavernous malformations (CCM) are prevalent cerebrovascular lesions predisposing to chronic headaches, epilepsy, and hemorrhagic stroke. Using a combination of direct sequencing and MLPA analyses, we identified 15 novel and eight previously published CCM1 (KRIT1), CCM2, and CCM3 (PDCD10) mu
## Communicated by Arupa Ganguly We have analyzed RNA from retinoblastoma patients and unaffected carriers with various RB1 gene mutations to determine the patterns of missplicing and associations with phenotypic expression. Most sequence alterations in or in the neighborhood of conserved splice s