A CARASIL patient from americas with novel mutation and atypical features: Case presentation and literature review

Medicine and Dentistry

• Case Presentation 100%
• Patient 100%
• Missense Mutation 66%
• Gene 50%
• External Capsule 33%
• Neuroimaging 33%
• Backache 16%
• Phenotype 16%
• Fibrinogen 16%
• Arginine 16%
• Diagnosis 16%
• Infarction 16%
• Protein Degradation 16%
• Brain Ischemia 16%
• Craniofacial Malformation 16%
• Hearing 16%
• Genetic Screening 16%
• Glycine 16%
• Man 16%
• Rest 16%
• Parent 16%
• Head 16%
• Transforming Growth Factor 16%

Biochemistry, Genetics and Molecular Biology

• Mutation 100%
• HTRA1 100%
• Missense Mutation 66%
• Nested Gene 50%
• Next Generation Sequencing 33%
• DNA Sequencing 33%
• Modulation 16%
• Phenotype 16%
• Arginine 16%
• Protein Catabolism 16%
• Glycine 16%
• Genetic Screening 16%
• Serine Protease 16%
• Proband 16%
• Hearing 16%
• Rest 16%
• Transforming Growth Factor 16%

Neuroscience

• Missense Mutation 66%
• White Matter 66%
• Gene 50%
• Brain Imaging 33%
• External Capsule 33%
• Clinical Method 33%
• Phenotype 16%
• Fibrinogen 16%
• Ischemic Stroke 16%
• Arginine 16%
• DNA Sequencing 16%
• Sensation of Hearing 16%
• Transforming Growth Factor 16%
• Lacunar Stroke 16%