Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: a causative mutation? [electronic resource]
Producer: 20130520Description: 202-7 p. digitalISSN:- 1879-0038
- 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
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Publication Type: Journal Article
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