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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...
Autores principales: | Scimone, Concetta, Bramanti, Placido, Ruggeri, Alessia, Donato, Luigi, Alafaci, Concetta, Crisafulli, Concetta, Mucciardi, Massimo, Rinaldi, Carmela, Sidoti, Antonina, D’Angelo, Rosalia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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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 |
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