Article
Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein.
Human mutation - 1 Jun 2009
Voss Katrin, Stahl Sonja, Hogan Benjamin M, Reinders Joerg, Schleider Elisa, Schulte-Merker Stefan, Felbor Ute
Abstract excerpt
Cerebral cavernous malformations (CCMs) may cause recurrent headaches, seizures, and hemorrhagic stroke and have been associated with loss-of-function mutations in CCM1/KRIT1, CCM2, and CCM3/programmed cell death 10 (PDCD10). The CCM3/PDCD10 amino acid sequence does not reveal significant homolog...
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