- Tytuł:
- PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype.
- Autorzy:
- Źródło:
- International journal of molecular sciences [Int J Mol Sci] 2021 Apr 08; Vol. 22 (8). Date of Electronic Publication: 2021 Apr 08.
- Typ publikacji:
- Case Reports
- MeSH Terms:
-
Mutation *
Cerebral Amyloid Angiopathy/*diagnosis
Cerebral Amyloid Angiopathy/*genetics
Cognitive Dysfunction/*diagnosis
Cognitive Dysfunction/*genetics
Presenilin-1/*genetics
Alleles ; Brain/diagnostic imaging ; Brain/pathology ; DNA Mutational Analysis ; Genetic Association Studies ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Models, Molecular ; Phenotype ; Presenilin-1/chemistry ; Protein Conformation
Raport