Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations. [electronic resource]
- Journal of molecular neuroscience : MN Nov 2015
- 400-3 p. digital
Publication Type: Case Reports; Journal Article
1559-1166
10.1007/s12031-015-0606-6 doi
Amino Acid Motifs Amino Acid Substitution Apoptosis Regulatory Proteins--genetics Carrier Proteins--genetics Conserved Sequence Gait Disorders, Neurologic--etiology Hemangioma, Cavernous, Central Nervous System--complications Humans KRIT1 Protein Magnetic Resonance Imaging Male Membrane Proteins--genetics Microtubule-Associated Proteins--genetics Middle Aged Mutation, Missense Neovascularization, Physiologic--genetics Pedigree Point Mutation Polymorphism, Single Nucleotide Proto-Oncogene Proteins--genetics Vision Disorders--etiology