Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: a causative mutation?

D'Angelo, Rosalia

Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: a causative mutation? [electronic resource] - Gene Apr 2013 - 202-7 p. digital

Publication Type: Journal Article

1879-0038

10.1016/j.gene.2012.09.045 doi


Adult
Carrier Proteins--genetics
Epilepsy--genetics
Exons
Female
Gene Expression Regulation
Hemangioma, Cavernous, Central Nervous System--genetics
Humans
Italy
Male
Middle Aged
Pedigree
Phenotype
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
RNA Splicing
RNA, Messenger--genetics
Real-Time Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction
Sequence Analysis, DNA
Sequence Deletion
White People--genetics