Article
Cerebral cavernous malformations: somatic mutations in vascular endothelial cells.
Neurosurgery - 1 Jul 2009
Gault Judith, Awad Issam A, Recksiek Peter, Shenkar Robert, Breeze Robert, Handler Michael, Kleinschmidt-DeMasters Bette K
Abstract excerpt
OBJECTIVE: Germline mutations in 3 genes have been found in familial cases of cerebral cavernous malformations (CCMs). We previously discovered somatic and germline truncating mutations in the KRIT1 gene, supporting the "2-hit" mechanism of CCM lesion formation in a single lesion. The purpose of this study was to screen for somatic, nonheritable mutations in 3 more lesions from different patients and identify the...
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