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