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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Detalhes bibliográficos
Publicado no:BMC Neurol
Main Authors: Lanfranconi, Silvia, Ronchi, Dario, Ahmed, Naghia, Civelli, Vittorio, Basilico, Paola, Bresolin, Nereo, Comi, Giacomo Pietro, Corti, Stefania
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4236643/
https://ncbi.nlm.nih.gov/pubmed/25086949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-014-0158-3
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