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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Veröffentlicht in:BMC Med Genet
Hauptverfasser: Scimone, Concetta, Bramanti, Placido, Ruggeri, Alessia, Donato, Luigi, Alafaci, Concetta, Crisafulli, Concetta, Mucciardi, Massimo, Rinaldi, Carmela, Sidoti, Antonina, D’Angelo, Rosalia
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2016
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5064884/
https://ncbi.nlm.nih.gov/pubmed/27737651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0332-0
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