Article
Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2020
Choquet Hélène, Kim Helen
Abstract excerpt
Familial cerebral cavernous malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by brain lesions that can cause hemorrhagic strokes, seizures, and neurological deficits. Carriers of the same genetic mutation can present with variable symptoms and severity of disease, suggesting the influence of modifier factors....
Topics
- Alleles
- Genes, Modifier
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Genotype
- Genotyping Techniques
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Microtubule-Associated Proteins
- Mutation