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CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study

BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular anomalies of the nervous system mostly located in the brain presenting sporadically or familial. Causes of familial forms are mutations in CCM1 (Krit1), CCM2 (MGC4607) and CCM3 (PDCD10) genes. Sporadic forms with no affected relative m...

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Detalles Bibliográficos
Autores principales: Scimone, Concetta, Bramanti, Placido, Ruggeri, Alessia, Donato, Luigi, Alafaci, Concetta, Crisafulli, Concetta, Mucciardi, Massimo, Rinaldi, Carmela, Sidoti, Antonina, D’Angelo, Rosalia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5064884/
https://www.ncbi.nlm.nih.gov/pubmed/27737651
http://dx.doi.org/10.1186/s12881-016-0332-0