A novel CCM1mutation associated with multiple cerebral and vertebral cavernous malformations

Background Cerebral cavernous malformations are relatively rare vascular disorders that may affect any part of the central nervous system. This presentation has been associated with heterozygous mutations in CCM1/KRIT1, CCM2/malcavernin and CCM3/PDCD10. We aimed to investigate the genetic defect und...

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Veröffentlicht in:BMC neurology 2014-08, Vol.14 (1), Article 158
Hauptverfasser: Lanfranconi, Silvia, Ronchi, Dario, Ahmed, Naghia, Civelli, Vittorio, Basilico, Paola, Bresolin, Nereo, Comi, Giacomo Pietro, Corti, Stefania
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Sprache:eng
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