Article
A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations.
Yi chuan xue bao = Acta genetica Sinica - 1 Feb 2006
Ji Bao-Hu, Qin Wei, Sun Tao, Feng Guo-Yin, He Lin, Wang Yu-Jiong
Abstract excerpt
Cerebral Cavernous Malformations (CCM) are vascular malformations that are mostly located in the central nervous system (CNS) and occasionally within the skin and retina, which are classified into three types (CCM1, CCM2 and CCM3) by being located at different loci on chromosomes. At present, CCM...
Topics
- Adult
- Aged
- Base Sequence
- Central Nervous System Neoplasms
- China
- DNA
- DNA Mutational Analysis
- Exons
- Female
- Genotype
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Male
- Microtubule-Associated Proteins
- Pedigree
- Proto-Oncogene Proteins
- Sequence Deletion