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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
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Research Article
Acesso em linha: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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