Articles with "mutation 1119dupt" as a keyword



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Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view

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Published in 2023 at "Frontiers in Neuroscience"

DOI: 10.3389/fnins.2023.1184333

Abstract: Cerebral cavernous malformations (CCMs) are common vascular anomaly diseases in the central nervous system associated with seizures, cerebral microbleeds, or asymptomatic mostly. CCMs can be classified as sporadic or familial, with familial cerebral cavernous malformations… read more here.

Keywords: familial cerebral; krit1 ccm1; cerebral cavernous; mutation ... See more keywords