TY  - GEN
AU  - Scimone,Concetta
AU  - Bramanti,Placido
AU  - Ruggeri,Alessia
AU  - Katsarou,Zoe
AU  - Donato,Luigi
AU  - Sidoti,Antonina
AU  - D'Angelo,Rosalia
TI  - Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations
SN  - 1559-1166
PY  - 2016///0810
KW  - Amino Acid Motifs
KW  - Amino Acid Substitution
KW  - Apoptosis Regulatory Proteins
KW  - genetics
KW  - Carrier Proteins
KW  - Conserved Sequence
KW  - Gait Disorders, Neurologic
KW  - etiology
KW  - Hemangioma, Cavernous, Central Nervous System
KW  - complications
KW  - Humans
KW  - KRIT1 Protein
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Membrane Proteins
KW  - Microtubule-Associated Proteins
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Neovascularization, Physiologic
KW  - Pedigree
KW  - Point Mutation
KW  - Polymorphism, Single Nucleotide
KW  - Proto-Oncogene Proteins
KW  - Vision Disorders
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s12031-015-0606-6
ER  -