article_metadata: Kaloyan R Stoychev Maya Stoimenova-Popova Petranka Chumpalova Lilia Ilieva Mohamed Swamad Zornitsa Kamburova-Martinova
article_metadata: 10.3389/fpsyt.2019.00857
article_metadata: Front Psychiatry
article_metadata: 2019 Dec 11;10:857.
article_metadata: psen1 mutation early onset alzheimer’s disease (eoad) genetic inheritance phenotypic heterogeneity whole exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/31920735/
article_metadata: Case Reports
article_metadata: PMC6918796
article_metadata: 31920735
article_metadata: A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD
article_metadata: 2019