Article
Phenotype Heterogeneity and Genotype Correlation of MAPT Mutations in a Chinese PUMCH Cohort.
Journal of molecular neuroscience : MN - 1 May 2021
Mao Chenhui, Dong Liling, Li Jie, Huang Xinying, Lei Dan, Wang Jie, Chu Shanshan, Liu Caiyan, Peng Bin, Cui Liying, Gao Jing
Abstract excerpt
Frontotemporal dementia (FTD) is a heterogeneous disease both clinically and pathologically. Genetic mutation in microtubule-associated protein tau (MAPT) is the most common cause of FTD, and the phenotype is related to the mutation location. However, the phenotype and genotype correlation varies somewhat among different cohorts and ethnicities. Whole-genome next-generation sequencing (NGS) was carried out for...
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