Article
Cerebral cavernous malformations: mutations in Krit1.
Neurology - 26 Mar 2002
Verlaan D J, Davenport W J, Stefan H, Sure U, Siegel A M, Rouleau G A
Abstract excerpt
OBJECTIVE: To find mutations in the recently identified additional exons of the Krit1 gene that causes CCM1, a disease characterized by the formation of cerebral cavernous malformations (CCM). To determine the relative frequency with which Krit1 mutations cause CCM as well as recharacterize the mutations reported in the literature. METHODS: Twenty-seven families and 11 apparently sporadic individuals affected...
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