A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD

一例携带罕见致病性PSEN1基因突变（L424V）的临床病例揭示了早发性家族性阿尔茨海默病的表型异质性。