Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations. [electronic resource]
Producer: 20160810Description: 400-3 p. digitalISSN:- 1559-1166
- 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
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Publication Type: Case Reports; Journal Article
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