Article
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).
Human molecular genetics - 1 Nov 1999
Sahoo T, Johnson E W, Thomas J W, Kuehl P M, Jones T L, Dokken C G, Touchman J W, Gallione C J, Lee-Lin S Q, Kosofsky B, Kurth J H, Louis D N, Mettler G, Morrison L, Gil-Nagel A, Rich S S, Zabramski J M, Boguski M S, Green E D, Marchuk D A
Abstract excerpt
Cerebral cavernous malformations (CCM) are congenital vascular anomalies of the brain that can cause significant neurological disabilities, including intractable seizures and hemorrhagic stroke. One locus for autosomal dominant CCM ( CCM1 ) maps to chromosome 7q21-q22. Recombination events in lin...
Topics
- Blood Vessels
- Brain
- Ethnicity
- Genetic Linkage
- Humans
- KRIT1 Protein
- Microtubule-Associated Proteins
- Molecular Sequence Data
- Mutation
- Physical Chromosome Mapping
- Proto-Oncogene Proteins