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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Bibliografiske detaljer
Udgivet i:BMC Med Genet
Main Authors: Scimone, Concetta, Bramanti, Placido, Ruggeri, Alessia, Donato, Luigi, Alafaci, Concetta, Crisafulli, Concetta, Mucciardi, Massimo, Rinaldi, Carmela, Sidoti, Antonina, D’Angelo, Rosalia
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Research Article
Online adgang: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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