Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization.
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DOI: 10.1016/j.bbrc.2019.05.185
Abstract: Clinical case study and functional characterization of the disease-associated presenilin-1 (PSEN1) mutations may help reveal the roles of PSEN1 in the pathogenesis of Alzheimer's disease (AD). By mutation screening of PSEN1, presenilin-2, and amyloid precursor… read more here.
Keywords: i249l p433s; early onset; production; chinese alzheimer ... See more keywords