Article
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.
BMC medical genetics - 13 Oct 2016
Scimone Concetta, Bramanti Placido, Ruggeri Alessia, Donato Luigi, Alafaci Concetta, Crisafulli Concetta, Mucciardi Massimo, Rinaldi Carmela, Sidoti Antonina, D'Angelo Rosalia
Abstract excerpt
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 most often have only one lesion and no germ line mutations. However, a number of sporadic cases with multiple lesions...
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