Article
Deletions in CCM2 are a common cause of cerebral cavernous malformations.
American journal of human genetics - 1 Jan 2007
Liquori Christina L, Berg Michel J, Squitieri Ferdinando, Leedom Tracey P, Ptacek Louis, Johnson Eric W, Marchuk Douglas A
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in a variety of neurological disabilities, including hemorrhagic stroke and seizures. Mutations in the gene KRIT1 are responsible for CCM1, mutations in the gene MGC4607 are responsible for CCM2, and mutations in the gene PDCD10 are responsible for CCM3. DNA sequence analysis of the known CCM genes in a cohort of 63...
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