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A novel CCM1 mutation 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 un...

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Detalles Bibliográficos
Autores principales:	Lanfranconi, Silvia, Ronchi, Dario, Ahmed, Naghia, Civelli, Vittorio, Basilico, Paola, Bresolin, Nereo, Comi, Giacomo Pietro, Corti, Stefania
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236643/ https://www.ncbi.nlm.nih.gov/pubmed/25086949 http://dx.doi.org/10.1186/s12883-014-0158-3

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