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 linked family members define a critical region of approximately 2 Mb and a shared disease haplotype associated with a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.