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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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2003
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180409/
https://ncbi.nlm.nih.gov/pubmed/14624391
Etiketler: Etiketle
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