Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations.

Scimone, Concetta

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