Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations

Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. Mutations in the gene KRIT1 are responsible for type 1 CCM (CCM1). We report that a novel gene,...

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Main Authors: Liquori, Christina L., Berg, Michel J., Siegel, Adrian M., Huang, Elizabeth, Zawistowski, Jon S., Stoffer, T’Prien, Verlaan, Dominique, Balogun, Fiyinfolu, Hughes, Lori, Leedom, Tracey P., Plummer, Nicholas W., Cannella, Milena, Maglione, Vittorio, Squitieri, Ferdinando, Johnson, Eric W., Rouleau, Guy A., Ptacek, Louis, Marchuk, Douglas A.
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2003
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Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180409/
https://ncbi.nlm.nih.gov/pubmed/14624391
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