Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts


Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in hemorrhagic stroke and seizures. Familial forms of CCM are inherited in an autosomal-dominant fashion, and three CCM genes have been identified. We recently determined that large genomic deletions in the CCM2 gene represent 22% of mutations in a large CCM… (More)
DOI: 10.1007/s10048-007-0109-x

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