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A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

Cavernous vascular malformations occur with a frequency of 1:200 and can cause recurrent headaches, seizures and hemorrhagic stroke if located in the brain. Familial cerebral cavernous malformations (CCMs) have been associated with germline mutations in CCM1/KRIT1, CCM2 or CCM3/PDCD10. For each of t...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Pagenstecher, Axel, Stahl, Sonja, Sure, Ulrich, Felbor, Ute
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2009
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2640205/
https://ncbi.nlm.nih.gov/pubmed/19088124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn420
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