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- W2341486672 abstract "Background Familial Amyloid Polyneuropathy (FAP ATTRV30M) is an AD systemic amyloidosis, due to a point mutation in the transthyretin (TTR) gene. Although in Portugal the disease has been characterized by its early onset (lower than 40yrs), a wider age-at-onset (AO) variability has been uncovered. The mean AO is 35.3, but more and more late-onset (higher than 50yrs) cases are being ascertained, often matched with older asymptomatic parents. Our aim now was to look into late-onset cases and agedasymptomatic carriers in order to unravel familial aggregation of late-onset and to characterize these families regarding their epidemiology." @default.
- W2341486672 created "2016-06-24" @default.
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- W2341486672 date "2015-01-01" @default.
- W2341486672 modified "2023-09-26" @default.
- W2341486672 title "Unravelling the epidemiology of late-onset and asymptomatic carriers of FAP ATTR V30M in a Portuguese population" @default.
- W2341486672 doi "https://doi.org/10.1186/1750-1172-10-s1-o3" @default.
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